A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243363



Internal ID22375551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100255821..100257784hg38UCSC Ensembl
chrX:99510819..99512782hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10216n152
Supporting Variantsnssv14438613
SamplesHG00733
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)nsv3243363
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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