A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715202



Internal ID21741523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60397975..60397975hg38UCSC Ensembl
chr17:58475336..58475336hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38904
hg19904
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244161, nssv17251959
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)nsv5715202
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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