A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594112



Internal ID16381521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45501378..45754666hg38UCSC Ensembl
Innerchr4:45503395..45756683hg19UCSC Ensembl
Innerchr4:45198152..45451440hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38253289
hg19253289
hg18253289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152682
SamplesHGDP01085
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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