A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318223



Internal ID20851314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185127393..185162881hg38UCSC Ensembl
chr1:185096525..185132013hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3835489
hg1935489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201771
Samples
Known GenesSWT1, TRMT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318223
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