A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549623



Internal ID16337032
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 StatusM
Merged Variantsdgv904n54
Supporting Variantsnssv739731, nssv1174090
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)nsv549623
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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