A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247299



Internal ID21694808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76346729..76346729hg38UCSC Ensembl
chr5:75642554..75642554hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714485
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)nssv17247299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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