A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703496



Internal ID21729817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209142222..209142222hg38UCSC Ensembl
chr1:209315567..209315567hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388437
hg198437
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221961
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)nsv5703496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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