A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730262



Internal ID21756583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158040049..158040049hg38UCSC Ensembl
chr5:157467057..157467057hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247494, nssv17248095
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)nsv5730262
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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