A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428138



Internal ID18624588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29097733..29245399hg38UCSC Ensembl
Innerchr6:29065510..29213176hg19UCSC Ensembl
Innerchr6:29173489..29321155hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38147667
hg19147667
hg18147667
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450619, nssv450621
SamplesHGDP01093, HGDP00449
Known GenesOR2J2, OR2J3
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428138
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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