A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428286



Internal ID18624736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19409089..19603381hg38UCSC Ensembl
Innerchr13:19983229..20177521hg19UCSC Ensembl
Innerchr13:18881229..19075521hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38194293
hg19194293
hg18194293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452350
SamplesNA19225
Known GenesTPTE2
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)nsv428286
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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