A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716183



Internal ID21742504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100562433..100562433hg38UCSC Ensembl
chr12:100956211..100956211hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239017, nssv17236101
Samples
Known GenesNR1H4
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)nsv5716183
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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