A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5663512



Internal ID21611817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9221418..9221418hg38UCSC Ensembl
chr12:9374014..9374014hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097170
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5663512
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