A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000122



Internal ID67663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99119181..99119231hg38UCSC Ensembl
chr7:98716804..98716854hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491875
Supporting Variants
Samples
Known GenesSMURF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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