A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219232



Internal ID22364317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:65448012..65462417hg38UCSC Ensembl
OuterchrX:64667892..64682297hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269879, nssv14269883, nssv14269881, nssv14269882, nssv14269884, nssv14269880
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219232
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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