A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648687



Internal ID21596992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65182181..65182181hg38UCSC Ensembl
chr11:64949652..64949652hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075266
SamplesHG00731
Known GenesCAPN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648687
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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