A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244231



Internal ID22375801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:92952521..92952714hg38UCSC Ensembl
chrX:92207520..92207713hg19UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412603
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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