A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645283



Internal ID21593588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30441211..30441211hg38UCSC Ensembl
chr12:30594144..30594144hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079412
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645283
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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