A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401093



Internal ID22458963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143123054..143129105hg38UCSC Ensembl
chr2:143880623..143886674hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386052
hg196052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895444
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401093
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