A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573293



Internal ID21521695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170470422..170479559hg38UCSC Ensembl
chr2:171326932..171336069hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389138
hg199138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109644
SamplesNA20847
Known GenesMYO3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573293
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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