A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174090



Internal ID15506619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248098027..248252360hg38UCSC Ensembl
Innerchr1:248261329..248415662hg19UCSC Ensembl
Innerchr1:246327952..246482285hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38154334
hg19154334
hg18154334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549623
Supporting Variants
Samples1780854079_A
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174090
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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