A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729332



Internal ID21755653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44648539..44648539hg38UCSC Ensembl
chr17:42725907..42725907hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234227
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)nsv5729332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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