A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17160561



Internal ID21483508
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 StatusS
Merged Variantsnsv5642058
Supporting Variants
SamplesHG03732
Known GenesKCNT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17160561
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer