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Variant : CV162697 (GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3) Homo sapiens

Symbol: CV162697
Name: GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3
Condition: See cases [RCV000141445]
Clinical Significance: uncertain significance
Last Evaluated: 10/15/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C2orf49   CD8B2   CNOT11   CREG2   ECRG4   FHL2   GPR45   IL18R1   IL18RAP   IL1R1   IL1R2   IL1RL1   IL1RL2   LINC01102   LINC01103   LINC01114   LINC01127   LINC01159   LINC01796   LINC01831   LINC01849   LINC01918   LINC01935   MAP4K4   MFSD9   MIR4772   MIR5696   MRPS9   MRPS9-AS1   MRPS9-AS2   NCK2   NMS   NPAS2   NPAS2-AS1   PANTR1   PDCL3   POU3F3   RFX8   RGPD3   RNF149   RPL31   SLC9A2   SLC9A4   SNORD89   TBC1D8   TBC1D8-AS1   TGFBRAP1   TMEM182   UXS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_100478285)_(106498909_?)dup
NC_000002.11:g.(?_101094747)_(107115365_?)dup
NC_000002.10:g.(?_100461179)_(106481797_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382100,478,285 - 106,498,909CLINVAR
GRCh372101,094,747 - 107,115,365CLINVAR
Build 362100,461,179 - 106,481,797CLINVAR
Cytogenetic Map22q11.2-12.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488970
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.