A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244221



Internal ID21691730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:62987496..62987496hg38UCSC Ensembl
chrX:62206966..62206966hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715243
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)nssv17244221
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