A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139867



Internal ID21404582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48148237..48148237hg38UCSC Ensembl
chr8:49060797..49060797hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634155
Supporting Variants
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139867
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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