A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714903



Internal ID21741224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45112959..45112959hg38UCSC Ensembl
chr3:45154451..45154451hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236291
Samples
Known GenesCDCP1
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)nsv5714903
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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