A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114568



Internal ID21454533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59296833..59296833hg38UCSC Ensembl
chr2:59523968..59523968hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618863
Supporting Variants
SamplesHG02011
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114568
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