A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648716



Internal ID21597021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70636916..70636916hg38UCSC Ensembl
chr11:70483021..70483021hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382497
hg192497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075525
SamplesHG03732
Known GenesSHANK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648716
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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