A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539210



Internal ID22408380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3326179..3326179hg38UCSC Ensembl
chrX:3244220..3244220hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466773, nssv14403896, nssv14429024
SamplesNA19240, HG00733, HG00514
Known GenesMXRA5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539210
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer