A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5664095



Internal ID21612400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47995231..47995231hg38UCSC Ensembl
chr12:48389014..48389014hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081287
SamplesHG02587
Known GenesCOL2A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5664095
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