A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363227



Internal ID22199266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32861134..32866728hg38UCSC Ensembl
chr12:33014068..33019662hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg385595
hg195595
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220462
Supporting Variants
SamplesHG00732
Known GenesPKP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer