A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727640



Internal ID21753961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4642631..4642631hg38UCSC Ensembl
chr2:4690221..4690221hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg385945
hg195945
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244588
Samples
Known GenesLOC727982
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5727640
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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