A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466223



Internal ID21123776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53342105..53355044hg38UCSC Ensembl
chr12:53735889..53748828hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3812940
hg1912940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188394
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466223
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