A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428338



Internal ID18624788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20383982..20578748hg38UCSC Ensembl
Innerchr17:20287295..20482061hg19UCSC Ensembl
Innerchr17:20227887..20422653hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38194767
hg19194767
hg18194767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453365, nssv453363
SamplesHGDP01093, HGDP00476
Known GenesCCDC144CP, KRT16P3, LGALS9B
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)nsv428338
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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