A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224337



Internal ID22367801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:4236547..4257937hg38UCSC Ensembl
OuterchrX:4154588..4175978hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381358
hg191358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269544, nssv14269545, nssv14269546, nssv14269543
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224337
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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