A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992341



Internal ID62355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2765209..2767977hg38UCSC Ensembl
chr7:2804843..2807611hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg382769
hg192769
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466535
Supporting Variants
Samples
Known GenesGNA12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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