A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721961



Internal ID21748282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100576352..100576352hg38UCSC Ensembl
chr2:101192814..101192814hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg384706
hg194706
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238112
Samples
Known GenesPDCL3
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)nsv5721961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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