A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109644



Internal ID21509488
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 StatusS
Merged Variantsnsv5573293
Supporting Variants
SamplesNA20847
Known GenesMYO3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109644
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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