A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546648



Internal ID16334057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80018289..80091130hg38UCSC Ensembl
Innerchr1:80483974..80556815hg19UCSC Ensembl
Innerchr1:80256562..80329403hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3872842
hg1972842
hg1872842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv337n54
Supporting Variantsnssv1173039
Samples1787431198_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546648
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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