A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250890



Internal ID21698399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24085459..24085459hg38UCSC Ensembl
chrX:24103576..24103576hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718611
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)nssv17250890
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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