A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457940



Internal ID21115493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19295701..19461900hg38UCSC Ensembl
chr12:19448635..19614834hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38166200
hg19166200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183884
Samples
Known GenesAEBP2, PLEKHA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457940
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