A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498632



Internal ID275620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69704216..69706304hg38UCSC Ensembl
chr12:70097996..70100084hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382089
hg192089
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688885
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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