A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428220



Internal ID18624670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:75701978..75878847hg38UCSC Ensembl
Innerchr9:78316894..78493763hg19UCSC Ensembl
Innerchr9:77506714..77683583hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38176870
hg19176870
hg18176870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451760, nssv451759
SamplesHGDP00984, HGDP00474
Known GenesMIR548H3
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)nsv428220
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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