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Variant : CV162705 (GRCh38/hg38 1q44(chr1:247930527-248622261)x3) Homo sapiens

Symbol: CV162705
Name: GRCh38/hg38 1q44(chr1:247930527-248622261)x3
Condition: See cases [RCV000141453]
Clinical Significance: benign
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OR14C36   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  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_247930527)_(248622261_?)dup
NC_000001.10:g.(?_248093829)_(248785562_?)dup
NC_000001.9:g.(?_246160452)_(246852185_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381247,930,527 - 248,622,261CLINVAR
GRCh371248,093,829 - 248,785,562CLINVAR
Build 361246,160,452 - 246,852,185CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488978
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.