A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391882



Internal ID22449752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171808202..171808311hg38UCSC Ensembl
chr2:172664712..172664821hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898153
Supporting Variants
Samples
Known GenesSLC25A12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391882
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