A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428350



Internal ID18278114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62218196..62395480hg38UCSC Ensembl
Innerchr17:60295557..60472841hg19UCSC Ensembl
Innerchr17:57650339..57826573hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38177285
hg19177285
hg18176235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453535, nssv453540, nssv453534, nssv453543, nssv453533, nssv453539, nssv453538, nssv453536, nssv453541, nssv453537
SamplesHGDP01087, HGDP00462, HGDP00463, HGDP01088, NA19189, HGDP00986, NA19113, NA19257, NA19108, NA19096
Known GenesEFCAB3, TBC1D3P2
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)nsv428350
Frequency
Sample Size62
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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