A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428116



Internal ID18624566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34098944..34369764hg38UCSC Ensembl
Innerchr5:34099049..34369869hg19UCSC Ensembl
Innerchr5:34134806..34405626hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38270821
hg19270821
hg18270821
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450416, nssv450413, nssv450410, nssv450412, nssv450417, nssv450422, nssv450414, nssv450419, nssv450418, nssv450421, nssv450411, nssv450415
SamplesHGDP01087, HGDP00463, NA18916, NA19189, HGDP00460, HGDP00467, NA19257, HGDP00984, HGDP00472, NA19096, HGDP01086, HGDP00449
Known GenesC1QTNF3-AMACR
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)nsv428116
Frequency
Sample Size62
Observed Gain10
Observed Loss2
Observed Complex0
Frequencyn/a


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