A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717064



Internal ID21743385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:27739380..27739380hg38UCSC Ensembl
chr4:27741002..27741002hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235158, nssv17250937
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)nsv5717064
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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