A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890463



Internal ID22665491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222513676..222513737hg38UCSC Ensembl
chr2:223378395..223378456hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400044
Samples
Known GenesSGPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890463
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