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Variant : CV160613 (GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3) Homo sapiens

Symbol: CV160613
Name: GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3
Condition: See cases [RCV000139658]
Clinical Significance: pathogenic
Last Evaluated: 05/03/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSF3   ANKRD11   APRT   BANP   C16orf74   C16orf95   CA5A   CBFA2T3   CDH15   CDK10   CDT1   CENPBD1   CHMP1A   COX4I1   CPNE7   CTU2   CYBA   DBNDD1   DEF8   DPEP1   EMC8   FANCA   FBXO31   FENDRR   FOXC2   FOXC2-AS1   FOXF1   FOXL1   GALNS   GAS8   GAS8-AS1   GINS2   GSE1   IL17C   IRF8   JPH3   KLHDC4   LINC00304   LINC00917   LINC01081   LINC01082   LINC02135   LINC02138   LINC02166   LINC02181   LINC02182   LINC02188   LINC02189   LOC100289580   LOC339059   MAP1LC3B   MC1R   MIR11401   MIR1910   MIR4722   MIR5189   MIR6774   MIR6775   MTHFSD   MVD   PABPN1L   PIEZO1   PRDM7   RNF166   RPL13   SLC22A31   SLC7A5   SNAI3   SNAI3-AS1   SNORA119   SNORD68   SPATA2L   SPATA33   SPG7   SPIRE2   TCF25   TRAPPC2L   TRM-CAT6-1   TUBB3   VPS9D1   VPS9D1-AS1   ZC3H18   ZC3H18-AS1   ZCCHC14   ZFPM1   ZNF276   ZNF469   ZNF778  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_85552976)_(90096995_?)dup
NC_000016.9:g.(?_85586582)_(90163403_?)dup
NC_000016.8:g.(?_84144083)_(88690904_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381685,552,976 - 90,096,995CLINVAR
GRCh371685,586,582 - 90,163,403CLINVAR
Build 361684,144,083 - 88,690,904CLINVAR
Cytogenetic Map1616q24.1-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487189
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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