A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455148



Internal ID22253539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13389468..13398643hg38UCSC Ensembl
chr12:13542402..13551577hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg389176
hg199176
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555821
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455148
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