A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904998



Internal ID22680178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241211520..241223076hg38UCSC Ensembl
chr2:242150935..242162491hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811557
hg1911557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397425
Samples
Known GenesANO7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904998
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