A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611078



Internal ID21559383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229337678..229337678hg38UCSC Ensembl
chr1:229473425..229473425hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063221
SamplesHG03486
Known GenesCCSAP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611078
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