A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999177



Internal ID67017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81954972..81955042hg38UCSC Ensembl
chr7:81584288..81584358hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488733
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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