A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549616



Internal ID16337025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991550..247992049hg38UCSC Ensembl
Innerchr1:248154852..248155351hg19UCSC Ensembl
Innerchr1:246221475..246221974hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38500
hg19500
hg18500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv902n54
Supporting Variantsnssv739724
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549616
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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