A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729912



Internal ID21756233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43122166..43122166hg38UCSC Ensembl
chr2:43349305..43349305hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235631, nssv17244358
Samples
Known Genes
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)nsv5729912
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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