A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541559



Internal ID316145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74435546..74435558hg38UCSC Ensembl
chrX:73655381..73655393hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740766
Samples
Known GenesSLC16A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541559
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