A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225338



Internal ID22368499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3691431..3691486hg38UCSC Ensembl
chrX:3609472..3609527hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV herv deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376693, nssv14439669
SamplesNA19240, HG00733
Known GenesPRKX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a HERV mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225338
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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