A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428204



Internal ID18624654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85493249..86299979hg38UCSC Ensembl
Innerchr8:86405478..87312208hg19UCSC Ensembl
Innerchr8:86592730..87381324hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38806731
hg19906731
hg18788595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451555, nssv451559, nssv451545, nssv451557, nssv451544, nssv451568, nssv451571, nssv451556, nssv451550, nssv451567, nssv451572, nssv451566, nssv451570, nssv451579, nssv451558, nssv451551, nssv451552, nssv451565, nssv451554, nssv451546, nssv451560, nssv451549, nssv451580, nssv451563, nssv451561, nssv451569, nssv451573, nssv451562
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP00478, HGDP00449
Known GenesATP6V0D2, PSKH2, REXO1L1, REXO1L2P, SLC7A13
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)nsv428204
Frequency
Sample Size62
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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