A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080694



Internal ID20647734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186699803..186700285hg38UCSC Ensembl
chr2:187564530..187565012hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337770
Supporting Variants
Samples
Known GenesFAM171B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080694
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00471


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