A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624752



Internal ID21573057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47370182..47370182hg38UCSC Ensembl
chr6:47337918..47337918hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146618
SamplesHG02011
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624752
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