A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318860



Internal ID20851952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179769936..180207393hg38UCSC Ensembl
chr1:179739071..180176528hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38437458
hg19437458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201714
Samples
Known GenesCEP350, FAM163A, FLJ23867, QSOX1, TOR1AIP1, TOR1AIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318860
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