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Variant : CV159802 (GRCh38/hg38 1q44(chr1:247682929-248622297)x3) Homo sapiens

Symbol: CV159802
Name: GRCh38/hg38 1q44(chr1:247682929-248622297)x3
Condition: See cases [RCV000138963]
Clinical Significance: benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OR11L1   OR14A16   OR14A2   OR14C36   OR14K1   OR1C1   OR2AJ1   OR2AK2   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T12   OR2T2   OR2T29   OR2T3   OR2T33   OR2T34   OR2T4   OR2T5   OR2T6   OR2T7   OR2T8   OR2W3   OR6F1   TRIM58  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_247682929)_(248622297_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381247,682,929 - 248,622,297CLINVAR
GRCh371247,846,231 - 248,785,598CLINVAR
Build 361245,912,854 - 246,852,221CLINVAR
Cytogenetic Map11q44CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9486495
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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