A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549615



Internal ID16337024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991499..247992049hg38UCSC Ensembl
Innerchr1:248154801..248155351hg19UCSC Ensembl
Innerchr1:246221424..246221974hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38551
hg19551
hg18551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv902n54
Supporting Variantsnssv739721, nssv739722, nssv739723
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549615
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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