A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927968



Internal ID19353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205431329..205431758hg38UCSC Ensembl
chr2:206296053..206296482hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453558
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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