A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573019



Internal ID21521416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234394910..234395043hg38UCSC Ensembl
chr1:234530656..234530789hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063295
SamplesNA20509
Known GenesTARBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573019
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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