A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717066



Internal ID21743387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55321894..55321894hg38UCSC Ensembl
chr2:55549030..55549030hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238375
Samples
Known GenesCCDC88A
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)nsv5717066
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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