A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975416



Internal ID22750351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53338003..53338003hg38UCSC Ensembl
chr13:53912138..53912138hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375171
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975416
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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