A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431542



Internal ID210317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31436621..31436745hg38UCSC Ensembl
chrX:31454738..31454862hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739849
Samples
Known GenesDMD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431542
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