A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269294



Internal ID22258623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31350987..31387975hg38UCSC Ensembl
Outerchr22:31746973..31783961hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3836989
hg1936989
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210927
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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