A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549613



Internal ID16337022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991310..247998492hg38UCSC Ensembl
Innerchr1:248154612..248161794hg19UCSC Ensembl
Innerchr1:246221235..246228417hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387183
hg197183
hg187183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739718
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549613
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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