A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607146



Internal ID21555451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235109150..235109150hg38UCSC Ensembl
chr2:236017794..236017794hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111922
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607146
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