A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614080



Internal ID21562385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187241560..187241560hg38UCSC Ensembl
chr3:186959348..186959348hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17135232
SamplesHG01596
Known GenesMASP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614080
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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