A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468241



Internal ID21125794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18437238..18570406hg38UCSC Ensembl
chr12:18590172..18723340hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38133169
hg19133169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1438n223
Supporting Variantsnssv17999691
Samples
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468241
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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