A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2798475



Internal ID21243813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55621512..55621512hg38UCSC Ensembl
chr18:53288743..53288743hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13685488, nssv13682686
Samples
Known GenesTCF4
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2798475
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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