A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594656



Internal ID21543256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78020015..78020338hg38UCSC Ensembl
chr13:78594150..78594473hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088643
SamplesHG00731
Known GenesLINC00446
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594656
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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