A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716518



Internal ID21742839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42585273..42585273hg38UCSC Ensembl
chr1:43050944..43050944hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248453
Samples
Known GenesCCDC30
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)nsv5716518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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