A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741993



Internal ID165659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111890542..111906542hg38UCSC Ensembl
chrX:111133770..111149770hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138176
Supporting Variants
Samples
Known GenesTRPC5, TRPC5OS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000418498


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