A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516693



Internal ID15097300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:33319026..33354533hg38UCSC Ensembl
Innerchr1:33784627..33820134hg19UCSC Ensembl
Innerchr1:33557214..33592721hg18UCSC Ensembl
Innerchr1:33453720..33489227hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3835508
hg1935508
hg1835508
hg1735508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687609, nssv670196, nssv657897, nssv689909
Samples
Known GenesA3GALT2, MIR3605, PHC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516693
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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