A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088547



Internal ID21456300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92120334..92120334hg38UCSC Ensembl
chr14:92586678..92586678hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655235
Supporting Variants
SamplesHG02492
Known GenesNDUFB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088547
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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