A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679997



Internal ID21706318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:95770180..95770180hg38UCSC Ensembl
chr6:96218056..96218056hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180676
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)nsv5679997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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