A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921894



Internal ID15353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182666976..182983731hg38UCSC Ensembl
chr2:183531703..183848459hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38316756
hg19316757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442639
Supporting Variants
Samples
Known GenesDNAJC10, FRZB, NCKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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