A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466421



Internal ID22130516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16210630..18436487hg38UCSC Ensembl
chr16:16304487..18527500hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382225858
hg192223014
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550983
Supporting Variants
SamplesHG00513
Known GenesABCC6, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NOMO3, NPIPA7, NPIPA8, PKD1P1, XYLT1
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466421
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer