A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720286



Internal ID21746607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81605111..81605111hg38UCSC Ensembl
chr17:79572137..79572137hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243804
Samples
Known GenesNPLOC4
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)nsv5720286
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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