A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546108



Internal ID15986831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41526085..41530010hg38UCSC Ensembl
Innerchr1:41991756..41995681hg19UCSC Ensembl
Innerchr1:41764343..41768268hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383926
hg193926
hg183926
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712657, nssv712658
Samples
Known GenesHIVEP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546108
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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