A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258698



Internal ID22221749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23029680..23053871hg38UCSC Ensembl
Outerchr16:23041001..23065192hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3824192
hg1924192
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217201
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258698
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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