A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248081



Internal ID22376881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109212581..109212697hg38UCSC Ensembl
chrX:108455810..108455926hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412626
SamplesHG00514
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)nsv3248081
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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