A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549611



Internal ID16337020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991310..247992049hg38UCSC Ensembl
Innerchr1:248154612..248155351hg19UCSC Ensembl
Innerchr1:246221235..246221974hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38740
hg19740
hg18740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv901n54
Supporting Variantsnssv739705, nssv739706
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549611
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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