A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462640



Internal ID22116254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95481309..95598040hg38UCSC Ensembl
chr2:96147057..96263788hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38116732
hg19116732
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550966
Supporting Variants
SamplesHG00512
Known GenesTRIM43, TRIM43B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462640
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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