A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438228



Internal ID15388039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95405582..95415350hg38UCSC Ensembl
Innerchr12:95799358..95809126hg19UCSC Ensembl
Innerchr12:94323489..94333257hg18UCSC Ensembl
Innerchr12:94301826..94311594hg16UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg389769
hg199769
hg189769
hg169769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470515, nssv470514
SamplesNA19209, NA19211
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)nsv438228
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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