A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606721



Internal ID16394130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43583370..43592243hg38UCSC Ensembl
Innerchr7:43622969..43631842hg19UCSC Ensembl
Innerchr7:43589494..43598367hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg388874
hg198874
hg188874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11292n54
Supporting Variantsnssv1083072, nssv1083064, nssv1083063, nssv1083071, nssv1083065, nssv1083062, nssv1083068, nssv1083069, nssv1083070, nssv1083066, nssv1083067
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606721
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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