A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575145



Internal ID16362554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46032477..46215654hg38UCSC Ensembl
Innerchr17:44109843..44293020hg19UCSC Ensembl
Innerchr17:41465690..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38183178
hg19183178
hg18183108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5617n54
Supporting Variantsnssv1149369
Samples1780862594_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)nsv575145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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