A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657220



Internal ID15047186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46040903..46172742hg38UCSC Ensembl
Innerchr17:44118269..44250108hg19UCSC Ensembl
Innerchr17:41474116..41605885hg18UCSC Ensembl
Innerchr17:41474116..41605885hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38131840
hg19131840
hg18131770
hg17131770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516807
Supporting Variants
Samples
Known GenesKANSL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657220
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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