A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646430



Internal ID21594735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110201280..110201280hg38UCSC Ensembl
chr13:110853627..110853627hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17096312
SamplesHG03371
Known GenesCOL4A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646430
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