A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179117



Internal ID21626626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1795472..1795472hg38UCSC Ensembl
chr6:1795706..1795706hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692779
Supporting Variants
Samples
Known GenesGMDS
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)nssv17179117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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