A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243736



Internal ID21691245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114039717..114039717hg38UCSC Ensembl
chr3:113758564..113758564hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728001
Supporting Variants
Samples
Known GenesKIAA1407
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)nssv17243736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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