A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428198



Internal ID18624648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39211790..39548205hg38UCSC Ensembl
Innerchr8:39069309..39405724hg19UCSC Ensembl
Innerchr8:39188466..39524881hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38336416
hg19336416
hg18336416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451494, nssv451489, nssv451481, nssv451504, nssv451496, nssv451501, nssv451508, nssv451493, nssv451497, nssv451492, nssv451483, nssv451499, nssv451503, nssv451484, nssv451482, nssv451490, nssv451505, nssv451502, nssv451486, nssv451491, nssv451488, nssv451485, nssv451506, nssv451495, nssv451500, nssv451507
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19113, NA19257, NA19108, NA19147, HGDP00984, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP01086, HGDP00449
Known GenesADAM32, ADAM3A, ADAM5
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)nsv428198
Frequency
Sample Size62
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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