A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17737030



Internal ID160696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53427140..53427978hg38UCSC Ensembl
chrX:53454088..53454926hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429142
Supporting Variants
Samples
Known GenesRIBC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17737030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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