A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530639



Internal ID21854995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204570788..204570942hg38UCSC Ensembl
chr2:205435511..205435665hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5987853
Supporting Variants
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530639
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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