A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549735



Internal ID15990458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248607960..248675031hg38UCSC Ensembl
Innerchr1:248771261..248838332hg19UCSC Ensembl
Innerchr1:246837884..246904955hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3867072
hg1967072
hg1867072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv740119, nssv740118
Samples
Known GenesOR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549735
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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