A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374303



Internal ID22599972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62193922..62195672hg38UCSC Ensembl
chr1:62659594..62661344hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869284
Supporting Variants
Samples
Known GenesL1TD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374303
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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