A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657654



Internal ID21605959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48424265..48424265hg38UCSC Ensembl
chr19:48927522..48927522hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382835
hg192835
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105120
SamplesHG00732
Known GenesGRIN2D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657654
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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