A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718700



Internal ID21745021
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 StatusM
Merged Variants
Supporting Variantsnssv17234472
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)nsv5718700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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