A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714527



Internal ID21740848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127333802..127333802hg38UCSC Ensembl
chr2:128091378..128091378hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247430, nssv17248413
Samples
Known GenesMAP3K2
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)nsv5714527
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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