A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382252



Internal ID22315655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130405825..130406155hg38UCSC Ensembl
chrX:129539799..129540129hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3273146
Supporting Variants
SamplesNA19240
Known GenesRBMX2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14382252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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