A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467189



Internal ID22144259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48616897..48617754hg38UCSC Ensembl
chr16:48650808..48651665hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38858
hg19858
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238273
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14467189
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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