A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697734



Internal ID15087700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:30242487..30257535hg38UCSC Ensembl
Innerchr5:30242594..30257642hg19UCSC Ensembl
Innerchr5:30278351..30293399hg18UCSC Ensembl
Innerchr5:30278351..30293399hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3815049
hg1915049
hg1815049
hg1715049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521010
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697734
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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