A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647950



Internal ID21596255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76793369..76793369hg38UCSC Ensembl
chr14:77259712..77259712hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091312
SamplesNA18939
Known GenesANGEL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647950
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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