A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107978



Internal ID21403440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123021128..123054324hg38UCSC Ensembl
chr2:123778704..123811900hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3833197
hg1933197
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668484
Supporting Variants
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107978
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer