A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234125



Internal ID21681634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150559330..150559330hg38UCSC Ensembl
chr3:150277117..150277117hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718462
Supporting Variants
Samples
Known GenesEIF2A
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)nssv17234125
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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