A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430746



Internal ID209542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84474000..84506542hg38UCSC Ensembl
chrX:83729008..83761550hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3832543
hg1932543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741133
Samples
Known GenesHDX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430746
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