A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723739



Internal ID21750060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108188819..108188819hg38UCSC Ensembl
chr7:107829263..107829263hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244847, nssv17236706
Samples
Known GenesNRCAM
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)nsv5723739
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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