A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800501



Internal ID21245839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069987..6069987hg38UCSC Ensembl
chr19:6069998..6069998hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13704070
Samples
Known GenesRFX2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800501
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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