A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512474



Internal ID289026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32803069..32816721hg38UCSC Ensembl
chr12:32956003..32969655hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3813653
hg1913653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055634
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512474
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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