A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512090



Internal ID288658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4251659..4251761hg38UCSC Ensembl
chr12:4360825..4360927hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054618
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512090
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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