A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10173n152



Internal ID22825876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81813579..81851844hg38UCSC Ensembl
chrX:81069078..81107343hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3838266
hg1938266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3205401, nsv3195113
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10173n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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