A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642058



Internal ID21590363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135707729..135707729hg38UCSC Ensembl
chr9:138599575..138599575hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17160561
SamplesHG03732
Known GenesKCNT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5642058
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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