A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525217



Internal ID15452510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233593700..233610513hg38UCSC Ensembl
Innerchr1:233729446..233746259hg19UCSC Ensembl
Innerchr1:231796069..231812882hg18UCSC Ensembl
Innerchr1:230036181..230052994hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3816814
hg1916814
hg1816814
hg1716814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701303
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525217
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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