A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428272



Internal ID18278036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10917246..11561987hg38UCSC Ensembl
Innerchr12:11069845..11714921hg19UCSC Ensembl
Innerchr12:10961112..11606188hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38644742
hg19645077
hg18645077
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452268, nssv452265, nssv452267, nssv452269, nssv452262, nssv452270, nssv452266, nssv452263
SamplesNA19257, NA19108, HGDP01087, NA19096, NA18916, NA19181, HGDP00460, HGDP00471
Known GenesLOC100129361, LOC338817, PRB1, PRB2, PRB3, PRB4, PRH1-PRR4, PRH2, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50
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)nsv428272
Frequency
Sample Size62
Observed Gain2
Observed Loss6
Observed Complex0
Frequencyn/a


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