A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558029



Internal ID16345438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30525692..30554102hg38UCSC Ensembl
Innerchr12:30678625..30707035hg19UCSC Ensembl
Innerchr12:30569892..30598302hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3828411
hg1928411
hg1828411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175825
SamplesHGDP00530
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558029
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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