A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588948



Internal ID16376357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35249531..35260247hg38UCSC Ensembl
Innerchr22:35645524..35656240hg19UCSC Ensembl
Innerchr22:33975524..33986240hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3810717
hg1910717
hg1810717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv955458
Samples
Known GenesHMGXB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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