A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265460



Internal ID22222597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:242152350..242163592hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3811243
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210051
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265460
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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