A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438344



Internal ID15041574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29460090..29490054hg38UCSC Ensembl
Innerchr22:29856079..29886043hg19UCSC Ensembl
Innerchr22:28186079..28216043hg18UCSC Ensembl
Innerchr22:28180633..28210597hg16UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3829965
hg1929965
hg1829965
hg1629965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470958, nssv470957
SamplesNA18552
Known GenesNEFH
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
Null genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438344
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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