A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476120



Internal ID21133673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133206285..133228463hg38UCSC Ensembl
chr12:133782871..133805049hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3822179
hg1922179
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187889
Samples
Known GenesANHX, ZNF268
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476120
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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