A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428292



Internal ID18624742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19074874..20088028hg38UCSC Ensembl
Innerchr14:19662531..20556187hg19UCSC Ensembl
Innerchr14:18732531..19626027hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381013155
hg19893657
hg18893497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452418, nssv452433, nssv452408, nssv452413, nssv452430, nssv452424, nssv452437, nssv452410, nssv452436, nssv452429, nssv452425, nssv452419, nssv452411, nssv452428, nssv452427, nssv452412, nssv452423, nssv452439, nssv452417, nssv452435, nssv452438, nssv452416, nssv452432, nssv452414, nssv452434, nssv452421, nssv452426, nssv452407, nssv452415, nssv452422
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00471, NA19096, HGDP00478, HGDP01086, HGDP00449
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4Q3, POTEM
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)nsv428292
Frequency
Sample Size62
Observed Gain5
Observed Loss25
Observed Complex0
Frequencyn/a


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