A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242506



Internal ID21690015
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 StatusS
Merged Variantsnsv5719685
Supporting Variants
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)nssv17242506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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