A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428422



Internal ID18278186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137344347..138686784hg38UCSC Ensembl
Innerchr3:137063189..138405626hg19UCSC Ensembl
Innerchr3:138545879..139888316hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381342438
hg191342438
hg181342438
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454281, nssv454280, nssv454279
SamplesHGDP00474, HGDP01094, HGDP00449
Known GenesA4GNT, ARMC8, CEP70, CLDN18, DBR1, DZIP1L, ESYT3, FAIM, MRAS, NME9, PIK3CB, SOX14
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)nsv428422
Frequency
Sample Size62
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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