A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972026



Internal ID22746961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52459146..52459146hg38UCSC Ensembl
chr15:52751343..52751343hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388717
Samples
Known GenesMYO5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972026
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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