A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428326



Internal ID18624776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35123392..35535271hg38UCSC Ensembl
Innerchr16:34357763..34769642hg19UCSC Ensembl
Innerchr16:34215264..34627143hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38411880
hg19411880
hg18411880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453232, nssv453210, nssv453235, nssv453236, nssv453222, nssv453212, nssv453216, nssv453211, nssv453234, nssv453229, nssv453227, nssv453221, nssv453228, nssv453238, nssv453237, nssv453240, nssv453218, nssv453233, nssv453217, nssv453215, nssv453213, nssv453226, nssv453225, nssv453214, nssv453231, nssv453239, nssv453223, nssv453224, nssv453220
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP01086, HGDP00449
Known GenesLOC100130700, LOC146481, LOC283914, UBE2MP1
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)nsv428326
Frequency
Sample Size62
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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