A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199252



Internal ID22348864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48638017..48676575hg38UCSC Ensembl
OuterchrX:48496405..48534964hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3838559
hg1938560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10116n152
Supporting Variantsnssv14270674, nssv14270675
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199252
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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