A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718578



Internal ID21744899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156752879..156752879hg38UCSC Ensembl
chr1:156722671..156722671hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241989
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)nsv5718578
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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