A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058687



Internal ID20625727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222587945..222588193hg38UCSC Ensembl
chr1:222761287..222761535hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326580
Supporting Variants
Samples
Known GenesTAF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058687
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