A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547633



Internal ID16335042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121429348..121628780hg38UCSC Ensembl
Innerchr1:121171208..121370578hg19UCSC Ensembl
Innerchr1:120872731..121072101hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38199433
hg19199371
hg18199371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527n54
Supporting Variantsnssv723026
Samples
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547633
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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