A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350879



Internal ID22576548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236047765..236048071hg38UCSC Ensembl
chr1:236211065..236211371hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882415
Supporting Variants
Samples
Known GenesNID1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350879
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