A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438325



Internal ID15041555
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 StatusM
Merged Variants
Supporting Variantsnssv470810, nssv470811, nssv470813, nssv470812, nssv470814
SamplesNA18994, NA18992, NA18973, NA18942, NA19007
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)nsv438325
Frequency
Sample Size269
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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