A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348741



Internal ID21006294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170407241..170413858hg38UCSC Ensembl
chr2:171263751..171270368hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386618
hg196618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207396
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348741
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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