A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450736



Internal ID18621244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35669306..35838727hg38UCSC Ensembl
Innerchr6:35637083..35806504hg19UCSC Ensembl
Innerchr6:35745061..35914482hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38169422
hg19169422
hg18169422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428143
Supporting Variants
SamplesNA18916
Known GenesARMC12, CLPS, CLPSL1, CLPSL2, FKBP5, LHFPL5, LOC285847, SRPK1
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)nssv450736
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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