A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139658



Internal ID21403877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67557945..67557945hg38UCSC Ensembl
chr8:68470180..68470180hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg382615
hg192615
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5630046
Supporting Variants
SamplesHG00512
Known GenesCPA6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139658
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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