A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730316



Internal ID21756637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110124488..110124488hg38UCSC Ensembl
chr10:111884246..111884246hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246977
Samples
Known GenesADD3
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)nsv5730316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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