A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606741



Internal ID16394150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43588549..43591768hg38UCSC Ensembl
Innerchr7:43628148..43631367hg19UCSC Ensembl
Innerchr7:43594673..43597892hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383220
hg193220
hg183220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11296n54
Supporting Variantsnssv1083211, nssv1083210
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606741
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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