A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927957



Internal ID19346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205249133..205256927hg38UCSC Ensembl
chr2:206113857..206121651hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387795
hg197795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448160
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927957
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001874


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