A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243078



Internal ID21690587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35757776..35757776hg38UCSC Ensembl
chr17:34084795..34084795hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720768
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)nssv17243078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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