A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259507



Internal ID22132836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:365832..405612hg38UCSC Ensembl
Outerchr16:415832..455612hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232059
Supporting Variants
SamplesHG00513
Known GenesDECR2, LOC100134368, MRPL28, NME4, TMEM8A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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