A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217617



Internal ID22363217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:106512906..106524067hg38UCSC Ensembl
OuterchrX:105756136..105767297hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270601, nssv14270600
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217617
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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