A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896021



Internal ID22671110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218230288..218232545hg38UCSC Ensembl
chr2:219095011..219097268hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382258
hg192258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394520
Samples
Known GenesARPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896021
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