A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332373



Internal ID20865543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1316634..1317192hg38UCSC Ensembl
chr1:1252014..1252572hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051470
Samples
Known GenesCPSF3L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332373
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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