A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657043



Internal ID21605348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3193357..3193357hg38UCSC Ensembl
chr18:3193355..3193355hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100737
SamplesHG00732
Known GenesMYOM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657043
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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