A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998403



Internal ID66480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80164873..80164930hg38UCSC Ensembl
chr7:79794189..79794246hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492960
Supporting Variants
Samples
Known GenesGNAI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998403
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00812


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