A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558913



Internal ID331964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44702257..44702308hg38UCSC Ensembl
chrX:44561503..44561554hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736678
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558913
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