A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721931



Internal ID21748252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73966115..73966115hg38UCSC Ensembl
chr10:75725873..75725873hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240599, nssv17249327
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)nsv5721931
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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