A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368533



Internal ID22594202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101842693..101842905hg38UCSC Ensembl
chr1:102308249..102308461hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879485
Supporting Variants
Samples
Known GenesOLFM3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368533
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer