A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428457



Internal ID18624907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189361857..189855750hg38UCSC Ensembl
Innerchr4:190283011..190776905hg19UCSC Ensembl
Innerchr4:190520005..191013899hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38493894
hg19493895
hg18493895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450253, nssv450244, nssv450245, nssv450237, nssv450234, nssv450236, nssv450218, nssv450227, nssv450235, nssv450238, nssv450248, nssv450246, nssv450239, nssv450230, nssv450240, nssv450252, nssv450217, nssv450241, nssv450251, nssv450260, nssv450249, nssv450247, nssv450250, nssv450258, nssv450228, nssv450259, nssv450261, nssv450229
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19257, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP00478, HGDP01086, 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)nsv428457
Frequency
Sample Size62
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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