A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400994



Internal ID22458864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94166944..94167978hg38UCSC Ensembl
chr1:94632500..94633534hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884394
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400994
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