A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5643705



Internal ID21592010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25428314..25428314hg38UCSC Ensembl
chr8:25285830..25285830hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17147972
SamplesHG03065
Known GenesKCTD9
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5643705
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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