A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204647



Internal ID21652156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68974811..68974811hg38UCSC Ensembl
chr2:69201943..69201943hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685793
Supporting Variants
Samples
Known GenesGKN1
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)nssv17204647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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