A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927951



Internal ID19342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205193400..205193457hg38UCSC Ensembl
chr2:206058124..206058181hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442769
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927951
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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