A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470546



Internal ID15386968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108400928..108414940hg38UCSC Ensembl
Innerchr12:108794705..108808717hg19UCSC Ensembl
Innerchr12:107318835..107332847hg18UCSC Ensembl
Innerchr12:107297172..107311184hg16UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3814013
hg1914013
hg1814013
hg1614013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438234
Supporting Variants
SamplesNA19100
Known Genes
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470546
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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