A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727971



Internal ID21754292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179852263..179852263hg38UCSC Ensembl
chr1:179821398..179821398hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249772
Samples
Known GenesTOR1AIP2
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)nsv5727971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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