A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722932



Internal ID21749253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212104936..212104936hg38UCSC Ensembl
chr1:212278278..212278278hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252981
Samples
Known GenesDTL
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)nsv5722932
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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