A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17233484



Internal ID21680993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151780409..151780409hg38UCSC Ensembl
chr5:151159970..151159970hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719210
Supporting Variants
Samples
Known GenesG3BP1
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)nssv17233484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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