A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561689



Internal ID334659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72710731..72710731hg38UCSC Ensembl
chrX:71930580..71930580hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740704
Samples
Known GenesPHKA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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