A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730504



Internal ID21756825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43217127..43217127hg38UCSC Ensembl
chr7:43256726..43256726hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252586, nssv17252629
Samples
Known GenesHECW1
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)nsv5730504
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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