A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717018



Internal ID21743339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49132436..49132436hg38UCSC Ensembl
chr12:49526219..49526219hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237721, nssv17250858
Samples
Known Genes
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)nsv5717018
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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