A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971447



Internal ID22746382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109318965..109318965hg38UCSC Ensembl
chr12:109756770..109756770hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364328
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971447
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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