A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646699



Internal ID21595004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66512073..66512073hg38UCSC Ensembl
chr11:66279544..66279544hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075293
SamplesHG03125
Known GenesBBS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646699
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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