A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282216



Internal ID22155900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:80259164..80262762hg38UCSC Ensembl
Outerchr10:82018920..82022518hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg383599
hg193599
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229229
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282216
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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