A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725708



Internal ID21752029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54185303..54185303hg38UCSC Ensembl
chr1:54650976..54650976hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240611, nssv17245431
Samples
Known GenesCYB5RL
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)nsv5725708
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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