A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470926



Internal ID15387772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22547644..22568655hg38UCSC Ensembl
Innerchr22:22890066..22911060hg19UCSC Ensembl
Innerchr22:21220066..21241060hg18UCSC Ensembl
Innerchr22:21214620..21235614hg16UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3821012
hg1920995
hg1820995
hg1620995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438338
Supporting Variants
Samples
Known GenesLOC648691, PRAME
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)nssv470926
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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