A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10279n152



Internal ID22825982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126703501..126730962hg38UCSC Ensembl
chrX:125837484..125864945hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3827462
hg1927462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3207494, nsv3191997
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10279n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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