A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428185



Internal ID18624635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:124317322..124399654hg38UCSC Ensembl
Innerchr7:123957376..124039708hg19UCSC Ensembl
Innerchr7:123744612..123826944hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3882333
hg1982333
hg1882333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451271, nssv451252, nssv451274, nssv451258, nssv451251, nssv451253, nssv451277, nssv451259, nssv451257, nssv451263, nssv451264, nssv451256, nssv451270, nssv451268, nssv451262, nssv451272, nssv451267, nssv451261, nssv451255, nssv451266, nssv451273, nssv451260, nssv451269, nssv451275
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00474, HGDP00471, NA19096, HGDP00449
Known Genes
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)nsv428185
Frequency
Sample Size62
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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