A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725649



Internal ID21751970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:129898985..129898985hg38UCSC Ensembl
chr10:131697249..131697249hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246592, nssv17248556
Samples
Known GenesEBF3
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)nsv5725649
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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