A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549643



Internal ID15990366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248548836..248631809hg38UCSC Ensembl
Innerchr1:248712137..248795110hg19UCSC Ensembl
Innerchr1:246778760..246861733hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3882974
hg1982974
hg1882974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv909n54
Supporting Variantsnssv739773
Samples
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549643
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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