A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413385



Internal ID22148682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24083252..24083567hg38UCSC Ensembl
chrX:24101369..24101684hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3273751
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14413385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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