A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596354



Internal ID16383763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184825378..184826384hg38UCSC Ensembl
Innerchr4:185746532..185747538hg19UCSC Ensembl
Innerchr4:185983526..185984532hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381007
hg191007
hg181007
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9420n54
Supporting Variantsnssv1017957, nssv1017958, nssv1017959, nssv1017956
Samples
Known GenesACSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596354
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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