A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646228



Internal ID21594533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51247056..51247056hg38UCSC Ensembl
chr12:51640840..51640840hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095885
SamplesNA19239
Known GenesSMAGP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646228
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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