A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517197



Internal ID15444490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7405839..7478801hg38UCSC Ensembl
Innerchr5:7405952..7478914hg19UCSC Ensembl
Innerchr5:7458952..7531914hg18UCSC Ensembl
Innerchr5:7458952..7531914hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3872963
hg1972963
hg1872963
hg1772963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689432, nssv671197, nssv653988, nssv658547
Samples
Known GenesADCY2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517197
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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