A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17516116



Internal ID22574078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3000095..3011094hg38UCSC Ensembl
chrX:2918136..2929135hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3811000
hg1911000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967792
Supporting Variants
Samples
Known GenesARSH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17516116
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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