A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998430



Internal ID66501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80402257..80583652hg38UCSC Ensembl
chr7:80031573..80212968hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38181396
hg19181396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485392
Supporting Variants
Samples
Known GenesGNAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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