A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912489



Internal ID9079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38756006..38756079hg38UCSC Ensembl
chr2:38983148..38983221hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441407
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912489
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.013302


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