A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492294



Internal ID21149847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117082917..117083536hg38UCSC Ensembl
chr12:117520722..117521341hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997180
Samples
Known GenesTESC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492294
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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