A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516437



Internal ID15443730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108963282..108972629hg38UCSC Ensembl
Innerchr2:109579738..109589085hg19UCSC Ensembl
Innerchr2:108946170..108955517hg18UCSC Ensembl
Innerchr2:109038256..109047603hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg389348
hg199348
hg189348
hg179348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685943, nssv677557, nssv655169, nssv680648, nssv693994, nssv676446, nssv668353, nssv700681, nssv679827
Samples
Known GenesEDAR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516437
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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