A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240116



Internal ID21687625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150119286..150119286hg38UCSC Ensembl
chr1:150091404..150091404hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38682
hg19682
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724543
Supporting Variants
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)nssv17240116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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