A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872513



Internal ID15819783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46192998..46290846hg38UCSC Ensembl
Innerchr17:44270364..44368212hg19UCSC Ensembl
Innerchr17:41626141..41723989hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3897849
hg1997849
hg1897849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575243
Supporting Variants
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)nssv872513
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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