A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428439



Internal ID18278203
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454416, nssv454414, nssv454415, nssv454417, nssv454418
SamplesHGDP00474, HGDP00463, NA19257, HGDP00462, HGDP00986
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)nsv428439
Frequency
Sample Size62
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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