A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594333



Internal ID16381742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62160105..62601316hg38UCSC Ensembl
Innerchr4:63025823..63467034hg19UCSC Ensembl
Innerchr4:62708418..63149629hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38441212
hg19441212
hg18441212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1000258
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594333
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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