A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558664



Internal ID331721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:109727330..109727381hg38UCSC Ensembl
chrX:108970559..108970610hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741934
Samples
Known GenesACSL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558664
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