A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400303



Internal ID179685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71127412..71127463hg38UCSC Ensembl
chr2:71354542..71354593hg19UCSC Ensembl
Cytoband2p13.3
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 Variantsnssv16916058
Samples
Known GenesMCEE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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