A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645247



Internal ID21593552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83714212..83714212hg38UCSC Ensembl
chr11:83425255..83425255hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076279
SamplesHG00513
Known GenesDLG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645247
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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