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Variant : CV162342 (GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3) Homo sapiens

Symbol: CV162342
Name: GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3
Condition: See cases [RCV000141128]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSF3   ADAD2   ANKRD11   APRT   ARLNC1   ATMIN   ATP2C2   ATP2C2-AS1   BANP   BCO1   C16orf46   C16orf74   C16orf95   CA5A   CBFA2T3   CDH13   CDH15   CDK10   CDT1   CDYL2   CENPBD1   CENPN   CHMP1A   CIBAR2   CMC2   CMIP   COTL1   COX4I1   CPNE7   CRISPLD2   CTU2   CYBA   DBNDD1   DEF8   DNAAF1   DPEP1   EMC8   FANCA   FBXO31   FENDRR   FOXC2   FOXC2-AS1   FOXF1   FOXL1   GALNS   GAN   GAS8   GAS8-AS1   GCSH   GINS2   GSE1   HSBP1   HSD17B2   HSDL1   IL17C   IRF8   JPH3   KCNG4   KIAA0513   KLHDC4   KLHL36   LINC00304   LINC00311   LINC00917   LINC01081   LINC01082   LINC02135   LINC02138   LINC02139   LINC02166   LINC02176   LINC02181   LINC02182   LINC02188   LINC02189   LOC100289580   LOC339059   MAP1LC3B   MBTPS1   MC1R   MEAK7   MIR11401   MIR12128   MIR1910   MIR3182   MIR4720   MIR4722   MIR5093   MIR5189   MIR6504   MIR6774   MIR6775   MIR7854   MIR8058   MLYCD   MPHOSPH6   MTHFSD   MVD   NECAB2   OSGIN1   PABPN1L   PIEZO1   PKD1L2   PLCG2   PRDM7   RNF166   RPL13   SDR42E1   SLC22A31   SLC38A8   SLC7A5   SNAI3   SNAI3-AS1   SNORA119   SNORD68   SPATA2L   SPATA33   SPG7   SPIRE2   TAF1C   TCF25   TRAPPC2L   TRM-CAT6-1   TUBB3   USP10   VPS9D1   VPS9D1-AS1   WFDC1   ZC3H18   ZC3H18-AS1   ZCCHC14   ZDHHC7   ZFPM1   ZNF276   ZNF469   ZNF778  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_80717291)_(90096662_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381680,717,291 - 90,096,662CLINVAR
GRCh371680,751,188 - 90,163,070CLINVAR
Build 361679,308,689 - 88,690,571CLINVAR
Cytogenetic Map1616q23.2-24.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9488655
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.