A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972911



Internal ID22747846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49974798..49974798hg38UCSC Ensembl
chr18:47501168..47501168hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387408
Samples
Known GenesMYO5B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972911
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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