A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725559



Internal ID21751880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70444793..70444793hg38UCSC Ensembl
chr10:72204549..72204549hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243421, nssv17248920
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)nsv5725559
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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