A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17152233



Internal ID21483485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96927485..96927485hg38UCSC Ensembl
chr6:97375361..97375361hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629279
Supporting Variants
SamplesHG03732
Known GenesKLHL32
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17152233
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