A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968443



Internal ID22743378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:59268720..59268720hg38UCSC Ensembl
chr15:59560919..59560919hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379643
Samples
Known GenesMYO1E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968443
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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