A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488517



Internal ID21146070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132759780..133021498hg38UCSC Ensembl
chr12:133336366..133598084hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38261719
hg19261719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1746n223
Supporting Variantsnssv18179304
Samples
Known GenesANKLE2, CHFR, GOLGA3, ZNF26, ZNF605
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488517
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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