A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17149583



Internal ID21475439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149634275..149634275hg38UCSC Ensembl
chr6:149955411..149955411hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383884
hg193884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629972
Supporting Variants
SamplesHG03371
Known GenesKATNA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17149583
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