A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730015



Internal ID21756336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19728853..19728853hg38UCSC Ensembl
chr19:19839662..19839662hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382540
hg192540
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243831
Samples
Known GenesZNF14
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)nsv5730015
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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