A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280537



Internal ID22199415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:52810961..52867702hg38UCSC Ensembl
Outerchr10:54570721..54627462hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3856742
hg1956742
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211293
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280537
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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