A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992347



Internal ID62359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2806822..2808081hg38UCSC Ensembl
chr7:2846456..2847715hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455697
Supporting Variants
Samples
Known GenesGNA12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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