A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575169



Internal ID16362578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46100627..46272724hg38UCSC Ensembl
Innerchr17:44177993..44350090hg19UCSC Ensembl
Innerchr17:41533806..41705867hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38172098
hg19172098
hg18172062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5618n54
Supporting Variantsnssv872400, nssv872398, nssv872401, nssv872402, nssv872396, nssv872399, nssv872397
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)nsv575169
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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