A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468989



Internal ID22526879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71215092..71220216hg38UCSC Ensembl
chrX:70434942..70440066hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385125
hg195125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877880
Supporting Variants
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468989
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00


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