A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927059



Internal ID18750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237926054..237929480hg38UCSC Ensembl
chr2:238834696..238838122hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383427
hg193427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451068
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927059
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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