A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17115617



Internal ID21450321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85474550..85474607hg38UCSC Ensembl
chr2:85701673..85701730hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572871
Supporting Variants
SamplesHG01114
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17115617
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