A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058803



Internal ID20625843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234477801..234479700hg38UCSC Ensembl
chr1:234613547..234615446hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328958
Supporting Variants
Samples
Known GenesTARBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058803
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.06413


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