A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700764



Internal ID15437416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100928646..100973462hg38UCSC Ensembl
Innerchr5:100264350..100309166hg19UCSC Ensembl
Innerchr5:100292249..100337065hg18UCSC Ensembl
Innerchr5:100292249..100337065hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3844817
hg1944817
hg1844817
hg1744817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524773
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700764
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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