A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3276724



Internal ID22377822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:76034022..76034332hg38UCSC Ensembl
chrX:75253857..75254167hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10159n152
Supporting Variantsnssv14384397, nssv14439995
SamplesNA19240, HG00733
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)nsv3276724
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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