A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730955



Internal ID21757276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36160810..36160810hg38UCSC Ensembl
chr22:36556858..36556858hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235305
Samples
Known GenesAPOL3
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)nsv5730955
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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