A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723826



Internal ID21750147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37910359..37910359hg38UCSC Ensembl
chr6:37878135..37878135hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241007, nssv17241835
Samples
Known GenesZFAND3
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)nsv5723826
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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