A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730152



Internal ID21756473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207740155..207740155hg38UCSC Ensembl
chr1:207913500..207913500hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243973
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)nsv5730152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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