A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657074



Internal ID21605379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53042184..53042184hg38UCSC Ensembl
chr12:53435968..53435968hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382231
hg192231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092183
SamplesHG02587
Known GenesEIF4B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657074
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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