A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594264



Internal ID16381673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:60421468..60493666hg38UCSC Ensembl
Innerchr4:61287186..61359384hg19UCSC Ensembl
Innerchr4:60969781..61041979hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3872199
hg1972199
hg1872199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152924
SamplesHGDP00056
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594264
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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