A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724543



Internal ID21750864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150119286..150119286hg38UCSC Ensembl
chr1:150091404..150091404hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239674, nssv17240116
Samples
Known GenesVPS45
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)nsv5724543
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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