A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547630



Internal ID16335039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121422747..121607560hg38UCSC Ensembl
Innerchr1:121164607..121349358hg19UCSC Ensembl
Innerchr1:120866130..121050881hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38184814
hg19184752
hg18184752
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527n54
Supporting Variantsnssv723022, nssv723021
Samples
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547630
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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