A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727173



Internal ID21753494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49250660..49250660hg38UCSC Ensembl
chr13:49824796..49824796hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244805
Samples
Known GenesCDADC1
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)nsv5727173
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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