A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519401



Internal ID15446694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175423647..175428146hg38UCSC Ensembl
Innerchr5:174850650..174855149hg19UCSC Ensembl
Innerchr5:174783256..174787755hg18UCSC Ensembl
Innerchr5:174783256..174787755hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg384500
hg194500
hg184500
hg174500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655943, nssv683866, nssv674913
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519401
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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