A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149372



Internal ID15855430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46053939..46215654hg38UCSC Ensembl
Innerchr17:44131305..44293020hg19UCSC Ensembl
Innerchr17:41487141..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38161716
hg19161716
hg18161657
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575148
Supporting Variants
Samples1780862592_A
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149372
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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