A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606723



Internal ID16394132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43583370..43604236hg38UCSC Ensembl
Innerchr7:43622969..43643835hg19UCSC Ensembl
Innerchr7:43589494..43610360hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3820867
hg1920867
hg1820867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11293n54
Supporting Variantsnssv1083078
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606723
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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