A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428349



Internal ID18278113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60982478..61242841hg38UCSC Ensembl
Innerchr17:59059839..59320202hg19UCSC Ensembl
Innerchr17:56414621..56674984hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38260364
hg19260364
hg18260364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453532
SamplesHGDP01094
Known GenesBCAS3
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)nsv428349
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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