A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723625



Internal ID21749946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74420303..74420303hg38UCSC Ensembl
chr2:74647430..74647430hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239361
Samples
Known Genes
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)nsv5723625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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