A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575243



Internal ID16015966
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 StatusM
Merged Variantsdgv5637n54
Supporting Variantsnssv872510, nssv872512, nssv872513, nssv872511, nssv872514
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)nsv575243
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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