A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428124



Internal ID18624574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:90354434..90517742hg38UCSC Ensembl
Innerchr1:90819992..90983299hg19UCSC Ensembl
Innerchr1:90592580..90755887hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38163309
hg19163308
hg18163308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450564, nssv450542, nssv450587, nssv450553, nssv450576, nssv450531, nssv450598
SamplesHGDP01093, NA18916, NA19181, NA19113, NA19147, HGDP01094, 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)nsv428124
Frequency
Sample Size62
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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