A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17064390



Internal ID21452649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27293650..27293650hg38UCSC Ensembl
chr1:27620141..27620141hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38999
hg19999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608150
Supporting Variants
SamplesHG01596
Known GenesWDTC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17064390
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