A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727538



Internal ID21753859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121625177..121625177hg38UCSC Ensembl
chr8:122637417..122637417hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249858, nssv17238205
Samples
Known GenesHAS2
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)nsv5727538
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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