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Variant : CV165159 (GRCh38/hg38 20p13(chr20:2526755-3081651)x3) Homo sapiens

Symbol: CV165159
Name: GRCh38/hg38 20p13(chr20:2526755-3081651)x3
Condition: See cases [RCV000143472]
Clinical Significance: uncertain significance
Last Evaluated: 06/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C20orf141   CPXM1   EBF4   GNRH2   IDH3B   MIR1292   MRPS26   NOP56   OXT   PCED1A   PTPRA   SNORA51   SNORD110   SNORD56   SNORD57   SNORD86   TMC2   TMEM239   VPS16  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_2526755)_(3081651_?)dup
NC_000020.10:g.(?_2507401)_(3062297_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38202,526,755 - 3,081,651CLINVAR
GRCh37202,507,401 - 3,062,297CLINVAR
Build 36202,455,401 - 3,010,297CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491070
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.