A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454417



Internal ID18273911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15555338..15747897hg38UCSC Ensembl
Innerchr4:15556961..15749520hg19UCSC Ensembl
Innerchr4:15166059..15358618hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38192560
hg19192560
hg18192560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428439
Supporting Variants
SamplesHGDP00986
Known GenesBST1, CC2D2A, FAM200B, FBXL5
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)nssv454417
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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