A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16275529



Internal ID20484747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18334634..18334634hg38UCSC Ensembl
chrX:18352754..18352754hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg385969
hg195969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4736080
Supporting Variants
Samples
Known GenesSCML2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16275529
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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