A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240534



Internal ID21688043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28166554..28166554hg38UCSC Ensembl
chr6:28134332..28134332hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725421
Supporting Variants
Samples
Known GenesZNF192P1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17240534
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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