A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575168



Internal ID16015891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46100627..46215654hg38UCSC Ensembl
Innerchr17:44177993..44293020hg19UCSC Ensembl
Innerchr17:41533806..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38115028
hg19115028
hg18114992
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5621n54
Supporting Variantsnssv872393, nssv872395, nssv872391, nssv872392, nssv872394, nssv872390, nssv872389, nssv872388
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)nsv575168
Frequency
Sample Size17421
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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