A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463540



Internal ID21121093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98575806..98685404hg38UCSC Ensembl
chr12:98969584..99079182hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38109599
hg19109599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182906
Samples
Known GenesAPAF1, IKBIP, SLC25A3, SNORA53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463540
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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