A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694488



Internal ID15431140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7375641..7378890hg38UCSC Ensembl
Innerchr5:7375754..7379003hg19UCSC Ensembl
Innerchr5:7428754..7432003hg18UCSC Ensembl
Innerchr5:7428754..7432003hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg383250
hg193250
hg183250
hg173250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521728
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694488
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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