A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000830



Internal ID68124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:103974051..103982144hg38UCSC Ensembl
chr7:103614498..103622591hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388094
hg198094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488416
Supporting Variants
Samples
Known GenesRELN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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