A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10331n152



Internal ID22826034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143320132..143419531hg38UCSC Ensembl
chrX:142407927..142507327hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3899400
hg1999401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3195180, nsv3202716
SamplesNA19238, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10331n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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