A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242629



Internal ID21690138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197108737..197108737hg38UCSC Ensembl
chr3:196835608..196835608hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720855
Supporting Variants
Samples
Known GenesDLG1
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)nssv17242629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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