A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714974



Internal ID21741295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58391611..58391611hg38UCSC Ensembl
chr3:58377338..58377338hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385735
hg195735
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246785, nssv17234583
Samples
Known GenesPXK
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)nsv5714974
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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