A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246258



Internal ID21693767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64439619..64439619hg38UCSC Ensembl
chr12:64833399..64833399hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg384195
hg194195
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720667
Supporting Variants
Samples
Known GenesXPOT
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)nssv17246258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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