A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17182046



Internal ID21629555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77261069..77261069hg38UCSC Ensembl
chr7:76890386..76890386hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691509
Supporting Variants
Samples
Known GenesCCDC146
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)nssv17182046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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