A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724757



Internal ID21751078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118032093..118032093hg38UCSC Ensembl
chr12:118469898..118469898hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252275
Samples
Known GenesRFC5
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)nsv5724757
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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