A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907574



Internal ID5834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7822994..7823052hg38UCSC Ensembl
chr1:7883054..7883112hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421104
Supporting Variants
Samples
Known GenesPER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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