A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18056682



Internal ID20623722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202332101..202341300hg38UCSC Ensembl
chr1:202301229..202310428hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335335
Supporting Variants
Samples
Known GenesUBE2T
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18056682
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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