A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926580



Internal ID18452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158790463..159097021hg38UCSC Ensembl
chr2:159646975..159953533hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38306559
hg19306559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450620
Supporting Variants
Samples
Known GenesDAPL1, TANC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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