A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960168



Internal ID22722607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200826395..200826395hg38UCSC Ensembl
chr2:201691118..201691118hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390839
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960168
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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