A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17195345



Internal ID21642854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92324417..92324417hg38UCSC Ensembl
chr13:92976670..92976670hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710248
Supporting Variants
Samples
Known GenesGPC5
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)nssv17195345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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