A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185015



Internal ID21632524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95267876..95267876hg38UCSC Ensembl
chr8:96280104..96280104hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5712848
Supporting Variants
Samples
Known GenesC8orf37
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)nssv17185015
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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