A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428243



Internal ID18278007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133245214..133767422hg38UCSC Ensembl
Innerchr10:135058718..135504747hg19UCSC Ensembl
Innerchr10:134908709..135354737hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38522209
hg19446030
hg18446029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451985, nssv451989, nssv451988, nssv451987
SamplesHGDP00474, NA19181, NA19225, HGDP00473
Known GenesADAM8, CALY, CYP2E1, DUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, ECHS1, FRG2B, FUOM, LOC100653046, MIR202, MIR202HG, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SPRNP1, SYCE1, TUBGCP2, ZNF511
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)nsv428243
Frequency
Sample Size62
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer