A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3270949



Internal ID22377533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24083249..24083563hg38UCSC Ensembl
chrX:24101366..24101680hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10055n152
Supporting Variantsnssv14391543
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)nsv3270949
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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