A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430322



Internal ID209134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73710227..73710358hg38UCSC Ensembl
chrX:72930062..72930193hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740731
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430322
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