A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10015n152



Internal ID22825718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:5124220..5198347hg38UCSC Ensembl
chrX:5042261..5116388hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3874128
hg1974128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3199184, nsv3203867
SamplesNA19239, HG00732, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10015n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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