A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593627



Internal ID16034350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8200484..8309316hg38UCSC Ensembl
Innerchr4:8202211..8311043hg19UCSC Ensembl
Innerchr4:8253111..8361943hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38108833
hg19108833
hg18108833
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv991230
Samples
Known GenesHTRA3, SH3TC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593627
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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