A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647247



Internal ID21595552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50434981..50434981hg38UCSC Ensembl
chr19:50938238..50938238hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105996
SamplesHG03486
Known GenesMYBPC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647247
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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