A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703520



Internal ID21729841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139341914..139341914hg38UCSC Ensembl
chrX:138424073..138424073hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231489
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a HERV mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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