A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705743



Internal ID15095709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82946968..82963153hg38UCSC Ensembl
Innerchr17:80904844..80921029hg19UCSC Ensembl
Innerchr17:78498133..78514318hg18UCSC Ensembl
Innerchr17:78498133..78514318hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3816186
hg1916186
hg1816186
hg1716186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv529032
Supporting Variants
Samples
Known GenesB3GNTL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705743
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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