A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247169



Internal ID21694678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179848093..179848093hg38UCSC Ensembl
chr5:179275093..179275093hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723726
Supporting Variants
Samples
Known GenesC5orf45
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)nssv17247169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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