A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482743



Internal ID21140296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120244341..120248985hg38UCSC Ensembl
chr12:120682144..120686788hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384645
hg194645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179443
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482743
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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