A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17516991



Internal ID22574954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:97514783..97528013hg38UCSC Ensembl
chrX:96769782..96783012hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3813231
hg1913231
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979164
Supporting Variants
Samples
Known GenesDIAPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17516991
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