A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703848



Internal ID15440500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80002336..80023890hg38UCSC Ensembl
Innerchr17:77976135..77997689hg19UCSC Ensembl
Innerchr17:75590730..75612284hg18UCSC Ensembl
Innerchr17:75590730..75612284hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3821555
hg1921555
hg1821555
hg1721555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527410
Supporting Variants
Samples
Known GenesTBC1D16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703848
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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