A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723268



Internal ID21749589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44570289..44570289hg38UCSC Ensembl
chr1:45035961..45035961hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245316, nssv17241176
Samples
Known GenesRNF220
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)nsv5723268
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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