A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10361n152



Internal ID22826064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154344204..154391905hg38UCSC Ensembl
chrX:153572572..153620247hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3847702
hg1947676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3220460, nsv3214299
SamplesNA19238, NA19239, HG00513
Known GenesEMD, FLNA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv10361n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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