A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741317



Internal ID164983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:88487458..88534045hg38UCSC Ensembl
chrX:87742459..87789046hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3846588
hg1946588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420199
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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