A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818634



Internal ID21263972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92034758..92034758hg38UCSC Ensembl
chr8:93046986..93046986hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13697478
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818634
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