A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608694



Internal ID16396103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143878890..144177097hg38UCSC Ensembl
Innerchr7:143575983..143874190hg19UCSC Ensembl
Innerchr7:143206916..143505123hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38298208
hg19298208
hg18298208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11664n54
Supporting Variantsnssv1096543, nssv1156105
SamplesNINDS_149
Known GenesFAM115A, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2F1, OR2F2, OR6B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608694
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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