A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911466



Internal ID8406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37207519..37207523hg38UCSC Ensembl
chr2:37434662..37434666hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397284
Supporting Variants
Samples
Known GenesCEBPZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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