A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281603



Internal ID22272913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:82057999..82072308hg38UCSC Ensembl
Outerchr8:82970234..82984543hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3814310
hg1914310
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216740
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281603
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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