A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546447



Internal ID15987170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67356694..67442961hg38UCSC Ensembl
Innerchr1:67822377..67908644hg19UCSC Ensembl
Innerchr1:67594965..67681232hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3886268
hg1986268
hg1886268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173010
SamplesHGDP00047
Known GenesIL12RB2, SERBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546447
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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