A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5874316



Internal ID22649267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94948522..94949877hg38UCSC Ensembl
chr2:95614267..95615622hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407868
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5874316
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