A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575241



Internal ID16015964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46192998..46196553hg38UCSC Ensembl
Innerchr17:44270364..44273919hg19UCSC Ensembl
Innerchr17:41626141..41629696hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383556
hg193556
hg183556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872506, nssv872502, nssv872504, nssv872507, nssv872503, nssv872505, nssv872508, nssv872501, nssv872500
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)nsv575241
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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