A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546303



Internal ID16333712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:55589517..55657837hg38UCSC Ensembl
Innerchr1:56055190..56123510hg19UCSC Ensembl
Innerchr1:55827778..55896098hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3868321
hg1968321
hg1868321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173858
SamplesHGDP00279
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546303
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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