A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472790



Internal ID21130343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8775101..8776700hg38UCSC Ensembl
chr12:8927697..8929296hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18005249
Samples
Known GenesRIMKLB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472790
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