A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867976



Internal ID22642911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114828098..114836330hg38UCSC Ensembl
chr1:115370719..115378951hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388233
hg198233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352297
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867976
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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