A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483163



Internal ID21140716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132715322..132715630hg38UCSC Ensembl
chr12:133291908..133292216hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999330
Samples
Known GenesPGAM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483163
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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