A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497365



Internal ID274403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4853581..4854289hg38UCSC Ensembl
chr12:4962747..4963455hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17052762
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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