A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872407



Internal ID15819677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46100627..46290849hg38UCSC Ensembl
Innerchr17:44177993..44368215hg19UCSC Ensembl
Innerchr17:41533806..41723992hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38190223
hg19190223
hg18190187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575171
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872407
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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