A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv661016



Internal ID15397668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54986382..55022807hg38UCSC Ensembl
Innerchr17:53063743..53100168hg19UCSC Ensembl
Innerchr17:50418742..50455167hg18UCSC Ensembl
Innerchr17:50418742..50455167hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3836426
hg1936426
hg1836426
hg1736426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515749
Supporting Variants
Samples
Known GenesSTXBP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv661016
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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