A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716089



Internal ID21742410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95089967..95089967hg38UCSC Ensembl
chr12:95483743..95483743hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247750
Samples
Known GenesFGD6
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)nsv5716089
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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