A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719685



Internal ID21746006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11311656..11311656hg38UCSC Ensembl
chr17:11214973..11214973hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242506
Samples
Known GenesSHISA6
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)nsv5719685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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