A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17150247



Internal ID21468531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78524024..78524024hg38UCSC Ensembl
chr8:79436259..79436259hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5627948
Supporting Variants
SamplesHG03125
Known GenesPKIA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17150247
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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