A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065458



Internal ID21434223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003042..55003042hg38UCSC Ensembl
chr1:55468715..55468715hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616563
Supporting Variants
SamplesHG00731
Known GenesBSND
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065458
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