A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv804158



Internal ID16098114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125199357..125256105hg38UCSC Ensembl
Innerchr12:125683903..125740651hg19UCSC Ensembl
Innerchr12:124249856..124306604hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3856749
hg1956749
hg1856749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560596
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv804158
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