A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549729



Internal ID15990452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248606934..248652258hg38UCSC Ensembl
Innerchr1:248770235..248815559hg19UCSC Ensembl
Innerchr1:246836858..246882182hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3845325
hg1945325
hg1845325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv920n54
Supporting Variantsnssv740054, nssv740053, nssv740052
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)nsv549729
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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