A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252304



Internal ID21699813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:78263610..78263610hg38UCSC Ensembl
chr14:78729953..78729953hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381932
hg191932
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730086
Supporting Variants
Samples
Known GenesNRXN3
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)nssv17252304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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