A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453570



Internal ID18275347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82816174..83064073hg38UCSC Ensembl
Innerchr17:80774050..81021949hg19UCSC Ensembl
Innerchr17:78367339..78615238hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38247900
hg19247900
hg18247900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428351
Supporting Variants
SamplesNA19257
Known GenesB3GNTL1, TBCD, ZNF750
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)nssv453570
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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