A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428417



Internal ID11591849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46638962..47778557hg38UCSC Ensembl
Innerchr3:46680452..47820047hg19UCSC Ensembl
Innerchr3:46655456..47795051hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381139596
hg191139596
hg181139596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454240, nssv454242, nssv454239, nssv454238, nssv454241, nssv454237, nssv454236
SamplesNA19108, HGDP01094, NA19189, NA19225, NA19113, HGDP00449, HGDP00472
Known GenesALS2CL, CCDC12, CSPG5, ELP6, KIF9, KIF9-AS1, KLHL18, MYL3, NBEAL2, NRADDP, PRSS42, PRSS45, PRSS46, PRSS50, PTH1R, PTPN23, SCAP, SETD2, SMARCC1, 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)nsv428417
Frequency
Sample Size62
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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