A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471479



Internal ID21129032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32862616..32865280hg38UCSC Ensembl
chr12:33015550..33018214hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382665
hg192665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000791
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471479
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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