A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269375



Internal ID22136108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42706849..42709423hg38UCSC Ensembl
Outerchr22:43102855..43105429hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382575
hg192575
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223463
Supporting Variants
SamplesHG00513
Known GenesA4GALT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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