A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575265



Internal ID16362674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46196553..46291969hg38UCSC Ensembl
Innerchr17:44273919..44369335hg19UCSC Ensembl
Innerchr17:41629696..41725112hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3895417
hg1995417
hg1895417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5624n54
Supporting Variantsnssv872541
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)nsv575265
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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