A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269406



Internal ID22222023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40736083..40767623hg38UCSC Ensembl
Outerchr22:41132087..41163627hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3831541
hg1931541
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219478
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269406
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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