A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998852



Internal ID66808
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 StatusS
Merged Variantsnsv5483451
Supporting Variants
Samples
Known GenesMAGI2-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998852
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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