A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742531



Internal ID166197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136166991..136167881hg38UCSC Ensembl
chrX:135249150..135250040hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138215
Supporting Variants
Samples
Known GenesFHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742531
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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