A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470548



Internal ID15385037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110945232..110953995hg38UCSC Ensembl
Innerchr12:111383036..111391799hg19UCSC Ensembl
Innerchr12:109867419..109876182hg18UCSC Ensembl
Innerchr12:109794989..109803752hg16UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg388764
hg198764
hg188764
hg168764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438235
Supporting Variants
SamplesNA12740
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)nssv470548
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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