A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610835



Internal ID21559140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212801296..212801296hg38UCSC Ensembl
chr1:212974638..212974638hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382420
hg192420
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062785
SamplesHG03683
Known GenesTATDN3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610835
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