A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724372



Internal ID21750693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42196046..42196046hg38UCSC Ensembl
chr6:42163784..42163784hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38803
hg19803
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251649
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)nsv5724372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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