A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406159



Internal ID22464029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168863979..168864035hg38UCSC Ensembl
chr2:169720489..169720545hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896158
Supporting Variants
Samples
Known GenesNOSTRIN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406159
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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