A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052972



Internal ID20620012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150579001..150580100hg38UCSC Ensembl
chr1:150551477..150552576hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322618
Supporting Variants
Samples
Known GenesMCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052972
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0007


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