A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209413



Internal ID22357497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:79631585..79684999hg38UCSC Ensembl
chrX:78887082..78940496hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3853415
hg1953415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14437446
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209413
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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