A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620912



Internal ID21569217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51387864..51387864hg38UCSC Ensembl
chr3:51425295..51425295hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129894
SamplesHG02587
Known GenesMANF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620912
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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