A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642377



Internal ID21590682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117097485..117097485hg38UCSC Ensembl
chr8:118109724..118109724hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141048
SamplesHG01596
Known GenesSLC30A8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642377
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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