A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457117



Internal ID21114670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105223819..105227377hg38UCSC Ensembl
chr12:105617597..105621155hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383559
hg193559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995957
Samples
Known GenesAPPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457117
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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