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Variant : CV160463 (GRCh38/hg38 1q44(chr1:248826567-248918467)x1) Homo sapiens

Symbol: CV160463
Name: GRCh38/hg38 1q44(chr1:248826567-248918467)x1
Condition: See cases [RCV000139528]
Clinical Significance: likely benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LOC115804255   LOC115804256   PGBD2   TRE-CTC2-1   TRL-CAA4-1   ZNF672   ZNF692  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_248826567)_(248918467_?)del
NC_000001.10:g.(?_249120766)_(249212666_?)del
NC_000001.9:g.(?_247087389)_(247179289_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381248,826,567 - 248,918,467CLINVAR
GRCh371249,120,766 - 249,212,666CLINVAR
Build 361247,087,389 - 247,179,289CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487059
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.