A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279101



Internal ID22199131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:101275543..101310164hg38UCSC Ensembl
Outerchr8:102287771..102322392hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3834622
hg1934622
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216943
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279101
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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