A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470958



Internal ID15041056
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 StatusS
Merged Variantsnsv438344
Supporting Variants
Samples
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).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470958
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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