A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612033



Internal ID16399442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117862068..117863296hg38UCSC Ensembl
Innerchr8:118874307..118875535hg19UCSC Ensembl
Innerchr8:118943488..118944716hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12290n54
Supporting Variantsnssv1120059, nssv1120084, nssv1120044, nssv1120038, nssv1120024, nssv1120042, nssv1120080, nssv1120082, nssv1120067, nssv1120035, nssv1120032, nssv1120055, nssv1120045, nssv1120064, nssv1120057, nssv1120075, nssv1120037, nssv1120033, nssv1120058, nssv1120051, nssv1120049, nssv1120039, nssv1120028, nssv1120071, nssv1120068, nssv1120043, nssv1120031, nssv1120046, nssv1120085, nssv1120073, nssv1120070, nssv1120023, nssv1120034, nssv1120078, nssv1120063, nssv1120056, nssv1120054, nssv1120076, nssv1120052, nssv1120074, nssv1120030, nssv1120066, nssv1120077, nssv1120027, nssv1120065, nssv1120069, nssv1120062, nssv1120036, nssv1120050, nssv1120061, nssv1120083, nssv1120060, nssv1120041, nssv1120081, nssv1120047, nssv1120079, nssv1120029, nssv1120048, nssv1120072, nssv1120040, nssv1120025, nssv1120026, nssv1120053
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612033
Frequency
Sample Size17421
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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