A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549687



Internal ID15990410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248586905..248626866hg38UCSC Ensembl
Innerchr1:248750206..248790167hg19UCSC Ensembl
Innerchr1:246816829..246856790hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3839962
hg1939962
hg1839962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv918n54
Supporting Variantsnssv739942, nssv739943, nssv739944
Samples
Known GenesOR2T10, OR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549687
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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