A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3275409



Internal ID22377752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107501345..107501534hg38UCSC Ensembl
chrX:106744575..106744764hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10231n152
Supporting Variantsnssv14385401
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3275409
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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