A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474554



Internal ID21132107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41082001..41092900hg38UCSC Ensembl
chr12:41475803..41486702hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810900
hg1910900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187528
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474554
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer