A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484253



Internal ID21141806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111364438..111364691hg38UCSC Ensembl
chr12:111802242..111802495hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996967
Samples
Known GenesFAM109A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484253
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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