A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054460



Internal ID20621500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185077249..185077559hg38UCSC Ensembl
chr1:185046381..185046691hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321193
Supporting Variants
Samples
Known GenesRNF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054460
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