A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9875n152



Internal ID22825578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:410583..611090hg38UCSC Ensembl
chrX:371318..571825hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38200508
hg19200508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3220776, nsv3230077, nsv3228364
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9875n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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