A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000721



Internal ID68048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99081856..99086526hg38UCSC Ensembl
chr7:98679479..98684149hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384671
hg194671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487129
Supporting Variants
Samples
Known GenesSMURF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000721
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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