A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428145



Internal ID18624595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:39436353..39493019hg38UCSC Ensembl
Innerchr6:39404129..39460795hg19UCSC Ensembl
Innerchr6:39512107..39568773hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3856667
hg1956667
hg1856667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450743, nssv450741
SamplesHGDP00471, HGDP00449
Known GenesKIF6
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)nsv428145
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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