A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519513



Internal ID15446806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5564469..5565428hg38UCSC Ensembl
Innerchr1:5624529..5625488hg19UCSC Ensembl
Innerchr1:5547116..5548075hg18UCSC Ensembl
Innerchr1:5558795..5559754hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38960
hg19960
hg18960
hg17960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2n21
Supporting Variantsnssv657312, nssv658059, nssv656507
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519513
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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