A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549630



Internal ID15990353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248214486..248525528hg38UCSC Ensembl
Innerchr1:248377788..248688829hg19UCSC Ensembl
Innerchr1:246444411..246755452hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38311043
hg19311042
hg18311042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739738
Samples
Known GenesOR14C36, OR2G6, OR2M4, OR2M7, OR2T1, OR2T12, OR2T2, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549630
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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