A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6455707



Internal ID21113260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7854501..8029000hg38UCSC Ensembl
chr12:8007097..8181596hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38174500
hg19174500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1362n223
Supporting Variantsnssv18195937
Samples
Known GenesSLC2A14, SLC2A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6455707
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