A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575143



Internal ID16362552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46032108..46215654hg38UCSC Ensembl
Innerchr17:44109474..44293020hg19UCSC Ensembl
Innerchr17:41465321..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38183547
hg19183547
hg18183477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5617n54
Supporting Variantsnssv872340
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575143
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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