A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546105



Internal ID15986828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41482073..41505541hg38UCSC Ensembl
Innerchr1:41947744..41971212hg19UCSC Ensembl
Innerchr1:41720331..41743799hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3823469
hg1923469
hg1823469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173837
SamplesHGDP00433
Known GenesEDN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546105
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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