A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547631



Internal ID16335040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121429348..121605956hg38UCSC Ensembl
Innerchr1:121171208..121347754hg19UCSC Ensembl
Innerchr1:120872731..121049277hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38176609
hg19176547
hg18176547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527n54
Supporting Variantsnssv723023
Samples
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547631
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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