A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903834



Internal ID3376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58538768..58549855hg38UCSC Ensembl
chr1:59004440..59015527hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3811088
hg1911088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427275
Supporting Variants
Samples
Known GenesOMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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