A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906230



Internal ID4948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68351401..68375346hg38UCSC Ensembl
chr1:68817084..68841029hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3823946
hg1923946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427748
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906230
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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