A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728740



Internal ID21755061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96927504..96927504hg38UCSC Ensembl
chr6:97375380..97375380hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243993, nssv17235355
Samples
Known GenesKLHL32
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)nsv5728740
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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