A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239743



Internal ID21687252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:44672813..44672813hg38UCSC Ensembl
chrX:44532059..44532059hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722784
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17239743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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