A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227097



Internal ID22369696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:89951092..90013016hg38UCSC Ensembl
Outerchr8:90963320..91025244hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3861925
hg1961925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279068, nssv14278873
SamplesHG00731, HG00513
Known GenesDECR1, NBN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227097
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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