A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128181



Internal ID21416851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240455..1240455hg38UCSC Ensembl
chr4:1234243..1234243hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621017
Supporting Variants
SamplesHG00731
Known GenesCTBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128181
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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