A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716442



Internal ID21742763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:28567319..28567319hg38UCSC Ensembl
chr10:28856248..28856248hg19UCSC Ensembl
Cytoband10p12.1
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 Variantsnssv17236390, nssv17233711
Samples
Known GenesWAC
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)nsv5716442
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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