A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594051



Internal ID16381460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40257979..40285776hg38UCSC Ensembl
Innerchr4:40259599..40287396hg19UCSC Ensembl
Innerchr4:39935994..39963791hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3827798
hg1927798
hg1827798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv996672
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594051
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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