A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832970



Internal ID22607905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3604220..3606119hg38UCSC Ensembl
chr2:3651810..3653709hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17484769, nssv17484768
Samples
Known GenesCOLEC11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832970
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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