A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423331



Internal ID202352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72606779..72607840hg38UCSC Ensembl
chrX:71826629..71827690hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740700
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423331
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