A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451989



Internal ID18275240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133415360..133767422hg38UCSC Ensembl
Innerchr10:135228864..135504747hg19UCSC Ensembl
Innerchr10:135078854..135354737hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38352063
hg19275884
hg18275884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428243
Supporting Variants
SamplesNA19225
Known GenesCYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, MTG1, SCART1, SPRN, SPRNP1, SYCE1
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)nssv451989
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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