A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004069



Internal ID70347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107926038..107926089hg38UCSC Ensembl
chr7:107566483..107566534hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg384017
hg194017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556831
Supporting Variants
Samples
Known GenesLAMB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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