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Variant : CV160969 (GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1) Homo sapiens

Symbol: CV160969
Name: GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1
Condition: See cases [RCV000139944]
Clinical Significance: likely pathogenic
Last Evaluated: 03/26/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ASF1A   CEP85L   DCBLD1   FAM184A   GOPC   GPRC6A   MAN1A1   MCM9   MIR548B   NUS1   PLN   RFX6   ROS1   SLC35F1   VGLL2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_116815199)_(119718887_?)del
Human AssemblyChrPosition (strand)Source
GRCh386116,815,199 - 119,718,887CLINVAR
GRCh376117,136,362 - 120,040,041CLINVAR
Build 366117,243,055 - 120,081,740CLINVAR
Cytogenetic Map66q22.1-22.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9487474
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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