A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715030



Internal ID21741351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87244478..87244478hg38UCSC Ensembl
chr7:86873794..86873794hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg382573
hg192573
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241347
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)nsv5715030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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