A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546111



Internal ID16333520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42890540..42894829hg38UCSC Ensembl
Innerchr1:43356211..43360500hg19UCSC Ensembl
Innerchr1:43128798..43133087hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384290
hg194290
hg184290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173839
SamplesHGDP01029
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546111
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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