A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927849



Internal ID19280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199951705..199951785hg38UCSC Ensembl
chr2:200816428..200816508hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439606
Supporting Variants
Samples
Known GenesTYW5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927849
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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