A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717530



Internal ID21743851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27350651..27350651hg38UCSC Ensembl
chr2:27573518..27573518hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247484
Samples
Known GenesGTF3C2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5717530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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