A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594111



Internal ID16381520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45481104..45980179hg38UCSC Ensembl
Innerchr4:45483121..45982196hg19UCSC Ensembl
Innerchr4:45177878..45676953hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38499076
hg19499076
hg18499076
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv996905
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594111
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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