A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450608



Internal ID18621792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:15595409..15781010hg38UCSC Ensembl
Innerchr6:15595640..15781241hg19UCSC Ensembl
Innerchr6:15703619..15889220hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38185602
hg19185602
hg18185602
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428136
Supporting Variants
SamplesNA19189
Known GenesDTNBP1
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)nssv450608
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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