A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379059



Internal ID22436929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38950386..38954246hg38UCSC Ensembl
chr1:39416058..39419918hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg383861
hg193861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881719
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379059
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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