A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594142



Internal ID16381551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49263849..49326473hg38UCSC Ensembl
Innerchr4:49265866..49328490hg19UCSC Ensembl
Innerchr4:48960623..49023247hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3862625
hg1962625
hg1862625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv997615, nssv997616
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594142
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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