A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737551



Internal ID161217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129654342..129654412hg38UCSC Ensembl
chrX:128788319..128788389hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416960
Supporting Variants
Samples
Known GenesAPLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737551
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