A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594058



Internal ID16381467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:42695536..42706677hg38UCSC Ensembl
Innerchr4:42697553..42708694hg19UCSC Ensembl
Innerchr4:42392310..42403451hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3811142
hg1911142
hg1811142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9024n54
Supporting Variantsnssv996678, nssv996679
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594058
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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