A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061090



Internal ID20628130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45480889..45483459hg38UCSC Ensembl
chr1:45946561..45949131hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382571
hg192571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321896
Supporting Variants
Samples
Known GenesTESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061090
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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