A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720558



Internal ID21746879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122731543..122731543hg38UCSC Ensembl
chr10:124491059..124491059hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249969
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)nsv5720558
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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