A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722589



Internal ID21748910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44799072..44799072hg38UCSC Ensembl
chr7:44838671..44838671hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246957, nssv17251346
Samples
Known GenesPPIA
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)nsv5722589
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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