A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179739



Internal ID21627248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136733840..136733840hg38UCSC Ensembl
chr6:137054978..137054978hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692225
Supporting Variants
Samples
Known GenesMAP3K5
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)nssv17179739
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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