A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547081



Internal ID15987804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103612312..103616562hg38UCSC Ensembl
Innerchr1:104154934..104159184hg19UCSC Ensembl
Innerchr1:103956457..103960707hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384251
hg194251
hg184251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv426n54
Supporting Variantsnssv720025, nssv720024
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547081
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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