A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268580



Internal ID22258753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:31350987..31369248hg38UCSC Ensembl
Outerchr22:31746973..31765234hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234238
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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