A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719603



Internal ID21745924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200336433..200336433hg38UCSC Ensembl
chr1:200305561..200305561hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236565, nssv17246717
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)nsv5719603
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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