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Variant : CV154476 (GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3) Homo sapiens

Symbol: CV154476
Name: GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3
Condition: See cases [RCV000134147]
Clinical Significance: uncertain significance
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALS2   CDK15   FZD7   KIAA2012   KIAA2012-AS1   MPP4   NOP58   SNORD11   SNORD11B   SNORD70   SNORD70B   SUMO1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_201674160)_(202308811_?)dup
NC_000002.11:g.(?_202538883)_(203173534_?)dup
NC_000002.10:g.(?_202247128)_(202881779_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382201,674,160 - 202,308,811CLINVAR
GRCh372202,538,883 - 203,173,534CLINVAR
Build 362202,247,128 - 202,881,779CLINVAR
Cytogenetic Map22q33.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481727
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.