A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375158



Internal ID22600827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35847623..35847623hg38UCSC Ensembl
chr13:36421760..36421760hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979911
Supporting Variants
Samples
Known GenesDCLK1, MIR548F5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375158
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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