A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818496



Internal ID21263834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30246699..30246775hg38UCSC Ensembl
chr8:30104215..30104291hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13704076
Samples
Known GenesMIR548O2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818496
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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