A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109280



Internal ID21456634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139846061..139846061hg38UCSC Ensembl
chr2:140603630..140603630hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610865
Supporting Variants
SamplesHG02492
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109280
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