A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269307



Internal ID22265320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45154116..45162763hg38UCSC Ensembl
Outerchr22:45549997..45558644hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388648
hg198648
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219676
Supporting Variants
SamplesNA19238
Known GenesLOC100506714
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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