A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976100



Internal ID22751035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43461336..43461336hg38UCSC Ensembl
chr20:42089976..42089976hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392238
Samples
Known GenesSRSF6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976100
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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