A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455181



Internal ID22249652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:140514521..140514521hg38UCSC Ensembl
chrX:139596686..139596686hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557905
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455181
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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