A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10116n152



Internal ID22825819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48638017..48676575hg38UCSC Ensembl
chrX:48496405..48534964hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3838559
hg1938560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3197258, nsv3199252
SamplesNA19239, NA19240
Known Genes
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10116n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer