A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454489



Internal ID22182560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:149591230..149663655hg38UCSC Ensembl
chrX:148672886..148745324hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3872426
hg1972439
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3545337
Supporting Variants
SamplesHG00514
Known GenesHSFX1, HSFX2, TMEM185A
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454489
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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