A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742404



Internal ID166070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133410102..133410153hg38UCSC Ensembl
chrX:132544130..132544181hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564047
Supporting Variants
Samples
Known GenesGPC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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