A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245848



Internal ID21693357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44028808..44028808hg38UCSC Ensembl
chr17:42106176..42106176hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730445
Supporting Variants
Samples
Known Genes
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)nssv17245848
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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