A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725637



Internal ID21751958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13925874..13925874hg38UCSC Ensembl
chr7:13965499..13965499hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242280, nssv17237810
Samples
Known GenesETV1
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)nsv5725637
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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