A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974100



Internal ID22749035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44215757..44215757hg38UCSC Ensembl
chr20:42844397..42844397hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400749
Samples
Known GenesOSER1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974100
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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