A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082334



Internal ID20649374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205249101..205256900hg38UCSC Ensembl
chr2:206113825..206121624hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353912
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082334
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00295


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