A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521343



Internal ID15101950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:175885050..176028825hg38UCSC Ensembl
Innerchr2:176749778..176893553hg19UCSC Ensembl
Innerchr2:176458024..176601799hg18UCSC Ensembl
Innerchr2:176575285..176719060hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38143776
hg19143776
hg18143776
hg17143776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697952
Samples
Known GenesKIAA1715
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521343
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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