A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470813



Internal ID15040111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19784656..19808063hg38UCSC Ensembl
Innerchr22:19772179..19795586hg19UCSC Ensembl
Innerchr22:18152179..18175586hg18UCSC Ensembl
Innerchr22:18146733..18170140hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3823408
hg1923408
hg1823408
hg1623408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438325
Supporting Variants
SamplesNA18992
Known GenesGNB1L
MethodSNP array
AnalysisNull 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)nssv470813
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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