A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593333



Internal ID16380742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1601469..1602019hg38UCSC Ensembl
Innerchr4:1603196..1603746hg19UCSC Ensembl
Innerchr4:1573156..1573706hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38551
hg19551
hg18551
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8899n54
Supporting Variantsnssv988436, nssv988437, nssv988435
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593333
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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