A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901367



Internal ID1727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32109733..32116298hg38UCSC Ensembl
chr1:32575334..32581899hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg386566
hg196566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425060
Supporting Variants
Samples
Known GenesKPNA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003279


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