A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549679



Internal ID16337088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248582901..248652258hg38UCSC Ensembl
Innerchr1:248746202..248815559hg19UCSC Ensembl
Innerchr1:246812825..246882182hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3869358
hg1969358
hg1869358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv914n54
Supporting Variantsnssv739896, nssv739900, nssv739901, nssv739897, nssv739899, nssv739895, nssv739898
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)nsv549679
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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