A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428442



Internal ID18624892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49055393..49658100hg38UCSC Ensembl
Innerchr4:49057410..49660117hg19UCSC Ensembl
Innerchr4:48752167..49354874hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38602708
hg19602708
hg18602708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454475, nssv454478, nssv454469, nssv454477, nssv454468, nssv454474
SamplesHGDP01087, HGDP01093, HGDP01089, HGDP00476, HGDP00473, NA19096
Known GenesCWH43
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)nsv428442
Frequency
Sample Size62
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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