A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647084



Internal ID21595389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5534668..5534668hg38UCSC Ensembl
chr12:5643834..5643834hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083922
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647084
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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