A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927969



Internal ID19354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205432779..205436660hg38UCSC Ensembl
chr2:206297503..206301384hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383882
hg193882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453824
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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