A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892714



Internal ID169318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179255381..179275674hg38UCSC Ensembl
chr1:179224516..179244809hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3820294
hg1920294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432310
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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