A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438239



Internal ID15388050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125722221..125723412hg38UCSC Ensembl
Innerchr12:126206767..126207958hg19UCSC Ensembl
Innerchr12:124772720..124773911hg18UCSC Ensembl
Innerchr12:124559866..124561057hg16UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381192
hg191192
hg181192
hg161192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470555, nssv470554
SamplesNA19131, NA19132
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)nsv438239
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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