A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905306



Internal ID4347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83590530..83591652hg38UCSC Ensembl
chr1:84056213..84057335hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381123
hg191123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432737
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.096502


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