A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549690



Internal ID15990413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248586905..248629659hg38UCSC Ensembl
Innerchr1:248750206..248792960hg19UCSC Ensembl
Innerchr1:246816829..246859583hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3842755
hg1942755
hg1842755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv918n54
Supporting Variantsnssv739960, nssv739956, nssv739959, nssv739958, nssv739957, nssv739961
Samples
Known GenesOR2T10, OR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549690
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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