A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10055n152



Internal ID22825758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24083249..24083567hg38UCSC Ensembl
chrX:24101366..24101684hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3273887, nsv3273751, nsv3270949
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10055n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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