A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458282



Internal ID21115835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68610401..68612200hg38UCSC Ensembl
chr12:69004181..69005980hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002465
Samples
Known GenesRAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458282
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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