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Variant : CV157027 (GRCh38/hg38 1q44(chr1:247798967-248521608)x3) Homo sapiens

Symbol: CV157027
Name: GRCh38/hg38 1q44(chr1:247798967-248521608)x3
Condition: See cases [RCV000136496]
Clinical Significance: benign
Last Evaluated: 10/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OR11L1   OR14A16   OR14C36   OR2AJ1   OR2AK2   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T12   OR2T2   OR2T3   OR2T33   OR2T4   OR2T5   OR2T6   OR2T7   OR2T8   OR2W3   TRIM58  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_247798967)_(248521608_?)dup
NC_000001.10:g.(?_247962269)_(248684909_?)dup
NC_000001.9:g.(?_246028892)_(246751532_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381247,798,967 - 248,521,608CLINVAR
GRCh371247,962,269 - 248,684,909CLINVAR
Build 361246,028,892 - 246,751,532CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484057
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.