A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606744



Internal ID16047467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43588950..43595683hg38UCSC Ensembl
Innerchr7:43628549..43635282hg19UCSC Ensembl
Innerchr7:43595074..43601807hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386734
hg196734
hg186734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083224
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606744
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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