A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483451



Internal ID260886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79466334..79470940hg38UCSC Ensembl
chr7:79095650..79100256hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg384607
hg194607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998852
Samples
Known GenesMAGI2-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483451
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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