A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398355



Internal ID177752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78202182..78202233hg38UCSC Ensembl
chr7:77831499..77831550hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999163
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398355
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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