A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428194



Internal ID18277958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6871593..8317524hg38UCSC Ensembl
Innerchr8:6729115..8175046hg19UCSC Ensembl
Innerchr8:6716525..8212456hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381445932
hg191445932
hg181495932
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451402, nssv451400, nssv451419, nssv451407, nssv451393, nssv451392, nssv451411, nssv451399, nssv451414, nssv451423, nssv451422, nssv451389, nssv451404, nssv451405, nssv451397, nssv451416, nssv451401, nssv451413, nssv451396, nssv451391, nssv451390, nssv451421, nssv451424, nssv451415, nssv451394
SamplesHGDP00450, HGDP00474, HGDP00984, NA19257, NA19108, NA19147, HGDP00476, HGDP00462, HGDP01093, HGDP01087, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19225, HGDP00478, NA19113, HGDP00473, HGDP00449, HGDP00471
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, DEFT1P, DEFT1P2, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
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)nsv428194
Frequency
Sample Size62
Observed Gain22
Observed Loss3
Observed Complex0
Frequencyn/a


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