A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724763



Internal ID21751084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160608909..160608909hg38UCSC Ensembl
chr1:160578699..160578699hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242360
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)nsv5724763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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