A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715243



Internal ID21741564
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 StatusM
Merged Variants
Supporting Variantsnssv17244221
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)nsv5715243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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