A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650776



Internal ID21599081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28285663..28285663hg38UCSC Ensembl
chr12:28438596..28438596hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079593
SamplesHG00732
Known GenesCCDC91
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650776
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