A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236665



Internal ID21684174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77679839..77679839hg38UCSC Ensembl
chr5:76975664..76975664hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715372
Supporting Variants
Samples
Known Genes
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)nssv17236665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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