A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739730



Internal ID15687000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248081901..248275904hg38UCSC Ensembl
Innerchr1:248245203..248439206hg19UCSC Ensembl
Innerchr1:246311826..246505829hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38194004
hg19194004
hg18194004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549622
Supporting Variants
Samples
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv739730
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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