A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470443



Internal ID15038912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48665031..48677462hg38UCSC Ensembl
Innerchr12:49058814..49071245hg19UCSC Ensembl
Innerchr12:47345081..47357512hg18UCSC Ensembl
Innerchr12:47345081..47357512hg16UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3812432
hg1912432
hg1812432
hg1612432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438209
Supporting Variants
SamplesNA18507
Known GenesKANSL2, SNORA2B
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)nssv470443
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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