A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974610



Internal ID22749545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79962851..79962851hg38UCSC Ensembl
chr12:80356631..80356631hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367873
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974610
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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