A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17736872



Internal ID160538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:48728782..48728782hg38UCSC Ensembl
chrX:48587187..48587187hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562225
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17736872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000249626


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