A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212363



Internal ID22359634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:24287560..24311948hg38UCSC Ensembl
Outerchr8:24145073..24169461hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3824389
hg1924389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279091, nssv14279092
SamplesHG00732, HG00733
Known GenesADAM28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212363
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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