A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285389



Internal ID20494607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170621443..170624527hg38UCSC Ensembl
chr2:171477953..171481037hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383085
hg193085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4733698
Supporting Variants
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285389
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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