A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259705



Internal ID22319354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:26171880..26179110hg38UCSC Ensembl
Outerchr16:26183201..26190431hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384388
hg194388
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237268
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259705
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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