A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467089



Internal ID21124642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18307544..18438593hg38UCSC Ensembl
chr12:18460478..18591527hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38131050
hg19131050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999675
Samples
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467089
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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