A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194497



Internal ID21642006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51038031..51038031hg38UCSC Ensembl
chr13:51612167..51612167hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701551
Supporting Variants
Samples
Known GenesGUCY1B2
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)nssv17194497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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