A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242984



Internal ID21690493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43633279..43633279hg38UCSC Ensembl
chr5:43633381..43633381hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729183
Supporting Variants
Samples
Known GenesNNT
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)nssv17242984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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