A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470012



Internal ID21127565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49088656..49093964hg38UCSC Ensembl
chr12:49482439..49487747hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385309
hg195309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188918
Samples
Known GenesDHH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470012
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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