A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454281



Internal ID18274404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:137892947..138214993hg38UCSC Ensembl
Innerchr3:137611789..137933835hg19UCSC Ensembl
Innerchr3:139094479..139416525hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38322047
hg19322047
hg18322047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428422
Supporting Variants
SamplesHGDP01094
Known GenesA4GNT, ARMC8, CLDN18, DBR1, DZIP1L
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)nssv454281
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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