A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575006



Internal ID16362415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41041489..41064053hg38UCSC Ensembl
Innerchr17:39197741..39220305hg19UCSC Ensembl
Innerchr17:36451267..36473831hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3822565
hg1922565
hg1822565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5591n54
Supporting Variantsnssv870552, nssv870550, nssv870547, nssv870551, nssv870549, nssv870548
Samples
Known GenesKRTAP2-1, KRTAP2-2, KRTAP2-3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575006
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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