A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703271



Internal ID21729592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30030037..30030037hg38UCSC Ensembl
chr13:30604174..30604174hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194437, nssv17215228
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703271
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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