A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3279854



Internal ID22378160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:121172383..121172480hg38UCSC Ensembl
chrX:120306237..120306334hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10265n152
Supporting Variantsnssv14377004
SamplesNA19240
Known Genes
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)nsv3279854
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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