A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6521267



Internal ID20894628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79504701..79685100hg38UCSC Ensembl
chr18:77264701..77445100hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38180400
hg19180400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197263
Samples
Known GenesCTDP1, NFATC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6521267
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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