A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647454



Internal ID21595759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72828926..72828926hg38UCSC Ensembl
chr11:72539971..72539971hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382686
hg192686
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076003
SamplesHG02587
Known GenesATG16L2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647454
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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