A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728807



Internal ID21755128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49528614..49528614hg38UCSC Ensembl
chr10:50736660..50736660hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236904
Samples
Known GenesERCC6, ERCC6-PGBD3
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)nsv5728807
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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