A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912239



Internal ID8909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42245079..42245166hg38UCSC Ensembl
chr2:42472219..42472306hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443974
Supporting Variants
Samples
Known GenesEML4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912239
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001561


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