A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890247



Internal ID167658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9474863..9478876hg38UCSC Ensembl
chr1:9534922..9538935hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384014
hg194014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416000
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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