A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605910



Internal ID21554215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186327281..186327281hg38UCSC Ensembl
chr1:186296413..186296413hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062541
SamplesHG00732
Known GenesMIR548F1, TPR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605910
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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