A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17075747



Internal ID21450266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67461352..67461352hg38UCSC Ensembl
chr11:67228823..67228823hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381046
hg191046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648239
Supporting Variants
SamplesHG01114
Known GenesCABP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17075747
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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