A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383248



Internal ID22288449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12744296..12744386hg38UCSC Ensembl
chrX:12762415..12762505hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170857
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14383248
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