A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419968



Internal ID199087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:82159915..82163683hg38UCSC Ensembl
chrX:81415364..81419132hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383769
hg193769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741078
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419968
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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