A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281607



Internal ID22272910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:86083734..86099118hg38UCSC Ensembl
Outerchr8:87095963..87111347hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3815385
hg1915385
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228918
Supporting Variants
SamplesNA19239
Known GenesATP6V0D2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281607
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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