A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395577



Internal ID22453447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46666572..46670623hg38UCSC Ensembl
chr2:46893711..46897762hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384052
hg194052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872855
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395577
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