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Variant : CV158623 (GRCh38/hg38 11p11.2(chr11:47992987-48761561)x3) Homo sapiens

Symbol: CV158623
Name: GRCh38/hg38 11p11.2(chr11:47992987-48761561)x3
Condition: See cases [RCV000137937]
Clinical Significance: conflicting data from submitters
Last Evaluated: 03/12/2012
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: MIR3161   OR4A47   OR4B1   OR4C3   OR4C5   OR4S1   OR4X1   OR4X2   PTPRJ  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_47992987)_(48761561_?)dup
NC_000011.9:g.(?_48014539)_(48783113_?)dup
NC_000011.8:g.(?_47971115)_(48739689_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381147,992,987 - 48,761,561CLINVAR
GRCh371148,014,539 - 48,783,113CLINVAR
Build 361147,971,115 - 48,739,689CLINVAR
Cytogenetic Map1111p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485488
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.