A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386937



Internal ID22302726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46935152..46936238hg38UCSC Ensembl
chrX:46794587..46795673hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272808
Supporting Variants
SamplesNA19240
Known GenesJADE3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386937
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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