A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614386



Internal ID21562691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157554195..157554195hg38UCSC Ensembl
chr2:158410707..158410707hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110368
SamplesHG00513
Known GenesACVR1C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614386
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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