A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428386



Internal ID18278150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21328921..21595800hg38UCSC Ensembl
Innerchr22:21683210..21950089hg19UCSC Ensembl
Innerchr22:20013210..20280089hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38266880
hg19266880
hg18266880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453979, nssv453965, nssv453966, nssv453988, nssv453989, nssv453969, nssv453981, nssv453970, nssv453987, nssv453980, nssv453985, nssv453976, nssv453972, nssv453984, nssv453978, nssv453982, nssv453973, nssv453974, nssv453968, nssv453983, nssv453971, nssv453977, nssv453967
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, NA19181, NA19113, NA19257, NA19225, HGDP01094, HGDP00984, HGDP00472, HGDP00471, NA19096, HGDP00449
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
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)nsv428386
Frequency
Sample Size62
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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