A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900945



Internal ID22676092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200273953..200274025hg38UCSC Ensembl
chr2:201138676..201138748hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391073
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900945
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