A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505389



Internal ID282166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22538309..22538408hg38UCSC Ensembl
chr12:22691243..22691342hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056300
Samples
Known GenesC2CD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505389
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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