A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589949



Internal ID16377358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:23585428..23766059hg38UCSC Ensembl
Innerchr3:23626919..23807550hg19UCSC Ensembl
Innerchr3:23601923..23782554hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38180632
hg19180632
hg18180632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151761
SamplesHGDP00543
Known GenesMIR548AC, UBE2E2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589949
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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