A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722240



Internal ID21748561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:17647286..17647286hg38UCSC Ensembl
chrX:17665406..17665406hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246315
Samples
Known GenesNHS
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)nsv5722240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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