A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244402



Internal ID21691911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48892962..48892962hg38UCSC Ensembl
chr12:49286745..49286745hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716052
Supporting Variants
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)nssv17244402
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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