A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379532



Internal ID22329786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49966585..49968970hg38UCSC Ensembl
chrX:49731195..49733583hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382386
hg192389
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248407
Supporting Variants
SamplesNA19240
Known GenesCLCN5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1HS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379532
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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