A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5662985



Internal ID21611290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77942673..77942673hg38UCSC Ensembl
chr13:78516808..78516808hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093017
SamplesHG02011
Known GenesEDNRB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5662985
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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