A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513357



Internal ID289883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102355624..102355899hg38UCSC Ensembl
chr12:102749402..102749677hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690410
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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