A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253141



Internal ID22057751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191316089..191316089hg38UCSC Ensembl
chr2:192180815..192180815hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853160
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253141
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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