A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269342



Internal ID22136094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44109893..44118640hg38UCSC Ensembl
Outerchr22:44505773..44514520hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388748
hg198748
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214350
Supporting Variants
SamplesHG00513
Known GenesPARVB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269342
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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