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Variant : CV158227 (GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3) Homo sapiens

Symbol: CV158227
Name: GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3
Condition: See cases [RCV000137550]
Clinical Significance: uncertain significance
Last Evaluated: 02/18/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CYTOR   EIF2AK3   EIF2AK3-DT   FABP1   FOXI3   IGK   IGKC   IGKDEL   IGKJ1   IGKJ2   IGKJ3   IGKJ4   IGKJ5   IGKV1-12   IGKV1-13   IGKV1-16   IGKV1-17   IGKV1-27   IGKV1-33   IGKV1-37   IGKV1-39   IGKV1-5   IGKV1-6   IGKV1-8   IGKV1-9   IGKV1D-12   IGKV1D-13   IGKV1D-16   IGKV1D-17   IGKV1D-33   IGKV1D-37   IGKV1D-39   IGKV1D-42   IGKV1D-43   IGKV1D-8   IGKV2-24   IGKV2-28   IGKV2-30   IGKV2-40   IGKV2D-24   IGKV2D-28   IGKV2D-29   IGKV2D-30   IGKV2D-40   IGKV3-11   IGKV3-15   IGKV3-20   IGKV3-7   IGKV3D-11   IGKV3D-15   IGKV3D-20   IGKV3D-7   IGKV4-1   IGKV5-2   IGKV6-21   IGKV6D-21   IGKV6D-41   KRCC1   MIR4435-1   MIR4436A   MIR4780   PLGLB2   RGPD2   RPIA   SMYD1   TEX37   THNSL2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_87375475)_(90282666_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38287,375,475 - 90,282,666CLINVAR
GRCh37287,602,598 - 91,619,262CLINVAR
Build 36287,456,109 - 90,982,989CLINVAR
Cytogenetic Map22p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9485105
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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