A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005651



Internal ID71380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148861228..148869501hg38UCSC Ensembl
chr7:148558320..148566593hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388274
hg198274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475524
Supporting Variants
Samples
Known GenesEZH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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