A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055634



Internal ID104925
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 StatusS
Merged Variantsnsv5512474
Supporting Variants
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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