A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454241



Internal ID18275210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46638962..46930999hg38UCSC Ensembl
Innerchr3:46680452..46972489hg19UCSC Ensembl
Innerchr3:46655456..46947493hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38292038
hg19292038
hg18292038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428417
Supporting Variants
SamplesNA19225
Known GenesALS2CL, CCDC12, MYL3, PRSS42, PRSS45, PRSS46, PRSS50, PTH1R, TMIE
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)nssv454241
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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