A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438218



Internal ID15388029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64624064..64643703hg38UCSC Ensembl
Innerchr12:65017844..65037483hg19UCSC Ensembl
Innerchr12:63304111..63323750hg18UCSC Ensembl
Innerchr12:63304111..63323750hg16UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3819640
hg1919640
hg1819640
hg1619640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470479, nssv470480
SamplesNA19145, NA19143
Known GenesRASSF3
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)nsv438218
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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