A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234472



Internal ID21681981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:58746782..58746782hg38UCSC Ensembl
chr15:59038981..59038981hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718700
Supporting Variants
Samples
Known GenesADAM10
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)nssv17234472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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