A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220462



Internal ID22365151
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363227, nssv14363228, nssv14363226
SamplesHG00731, HG00732, HG00733
Known GenesPKP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220462
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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