A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575144



Internal ID16015867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46032108..46277430hg38UCSC Ensembl
Innerchr17:44109474..44354796hg19UCSC Ensembl
Innerchr17:41465321..41710573hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38245323
hg19245323
hg18245253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872341
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)nsv575144
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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