A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726768



Internal ID21753089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75425012..75425012hg38UCSC Ensembl
chr15:75717353..75717353hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251584
Samples
Known GenesSIN3A
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)nsv5726768
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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