A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10287n152



Internal ID22825990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130504642..130504725hg38UCSC Ensembl
chrX:129638616..129638699hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280310, nsv3280177
SamplesHG00733, 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)dgv10287n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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