A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282666



Internal ID22381002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120296570..120297171hg38UCSC Ensembl
chrX:119430425..119431026hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10261n152
Supporting Variantsnssv14391848
SamplesNA19240
Known GenesTMEM255A
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)nsv3282666
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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