A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729774



Internal ID21756095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99266533..99266533hg38UCSC Ensembl
chr7:98864156..98864156hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246498
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)nsv5729774
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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