A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248536



Internal ID21696045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176971799..176971799hg38UCSC Ensembl
chr2:177836527..177836527hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728152
Supporting Variants
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)nssv17248536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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