A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258676



Internal ID22260131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:11558143..11592950hg38UCSC Ensembl
Outerchr16:11651999..11686806hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3834808
hg1934808
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220203
Supporting Variants
SamplesNA19238
Known GenesLITAF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258676
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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