A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389347



Internal ID22447217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40678275..40678275hg38UCSC Ensembl
chr13:41252412..41252412hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967785
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389347
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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