A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238118



Internal ID22374065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:38496986..38497636hg38UCSC Ensembl
chrX:38356239..38356889hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385757
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1P mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238118
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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