A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044242



Internal ID21953531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170648633..170648633hg38UCSC Ensembl
chr2:171505143..171505143hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531459
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044242
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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