A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248556



Internal ID21696065
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 StatusS
Merged Variantsnsv5725649
Supporting Variants
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)nssv17248556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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