A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5638502



Internal ID21586807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56104520..56104520hg38UCSC Ensembl
chr8:57017079..57017079hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17156035
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5638502
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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