A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606730



Internal ID16394139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43586259..43591529hg38UCSC Ensembl
Innerchr7:43625858..43631128hg19UCSC Ensembl
Innerchr7:43592383..43597653hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385271
hg195271
hg185271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11294n54
Supporting Variantsnssv1083185, nssv1083184
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606730
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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