A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549711



Internal ID15990434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248587242..248652258hg38UCSC Ensembl
Innerchr1:248750543..248815559hg19UCSC Ensembl
Innerchr1:246817166..246882182hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3865017
hg1965017
hg1865017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv914n54
Supporting Variantsnssv740028
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549711
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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