A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722603



Internal ID21748924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12415613..12415613hg38UCSC Ensembl
chr1:12475666..12475666hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236265, nssv17242059
Samples
Known GenesVPS13D
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)nsv5722603
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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