A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279091



Internal ID22199124
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212363
Supporting Variants
SamplesHG00732
Known GenesADAM28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279091
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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