A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454291



Internal ID18273032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:164382966..165879735hg38UCSC Ensembl
Innerchr3:164100754..165597523hg19UCSC Ensembl
Innerchr3:165583448..167080217hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg381496770
hg191496770
hg181496770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428426
Supporting Variants
SamplesHGDP00449
Known GenesBCHE, SI, SLITRK3
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)nssv454291
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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