A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476512



Internal ID21134065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118381646..118382927hg38UCSC Ensembl
chr12:118819451..118820732hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381282
hg191282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182142
Samples
Known GenesSUDS3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476512
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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