A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108248



Internal ID21441343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117853981..117854032hg38UCSC Ensembl
chr2:118611557..118611608hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5575599
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108248
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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