A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112179



Internal ID21481127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237088360..237088360hg38UCSC Ensembl
chr2:237997003..237997003hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5606880
Supporting Variants
SamplesHG03683
Known GenesCOPS8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112179
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