A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716102



Internal ID21742423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234051183..234051183hg38UCSC Ensembl
chr2:234959827..234959827hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240976
Samples
Known GenesSPP2
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)nsv5716102
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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