A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494390



Internal ID21151943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117645945..117662750hg38UCSC Ensembl
chr12:118083750..118100555hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3816806
hg1916806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997205
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494390
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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