A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727770



Internal ID21754091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:25904010..25904010hg38UCSC Ensembl
chr7:25943630..25943630hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239210, nssv17240671
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)nsv5727770
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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