A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470952



Internal ID15384412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25402665..25410982hg38UCSC Ensembl
Innerchr22:25798632..25806949hg19UCSC Ensembl
Innerchr22:24128632..24136949hg18UCSC Ensembl
Innerchr22:24123186..24131503hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg388318
hg198318
hg188318
hg168318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438342
Supporting Variants
SamplesNA10856
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)nssv470952
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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