A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247877



Internal ID21695386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48335589..48335589hg38UCSC Ensembl
chr3:48377079..48377079hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716362
Supporting Variants
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)nssv17247877
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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