A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987050



Internal ID21896393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398209..191398382hg38UCSC Ensembl
chr2:192262935..192263108hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520293
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987050
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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