A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677608



Internal ID21703929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241151657..241151657hg38UCSC Ensembl
chr2:242091072..242091072hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216646, nssv17210305
Samples
Known GenesPPP1R7
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5677608
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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