A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498730



Internal ID275714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5498674..5498812hg38UCSC Ensembl
chr12:5607840..5607978hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054972
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498730
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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