A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516047



Internal ID15443340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18518460..18665393hg38UCSC Ensembl
Innerchr5:18518569..18665502hg19UCSC Ensembl
Innerchr5:18554326..18701259hg18UCSC Ensembl
Innerchr5:18554326..18701259hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38146934
hg19146934
hg18146934
hg17146934
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665879, nssv692267, nssv686649, nssv699673, nssv690688, nssv655389, nssv658832, nssv671155, nssv679737, nssv673798, nssv668218
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516047
Frequency
Sample Size2026
Observed Gain9
Observed Loss2
Observed Complex0
Frequencyn/a


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