A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17153379



Internal ID21494770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121226943..121226943hg38UCSC Ensembl
chr6:121548089..121548089hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5636607
Supporting Variants
SamplesNA19238
Known GenesTBC1D32
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17153379
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