A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608599



Internal ID21556904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183017819..183017819hg38UCSC Ensembl
chr3:182735607..182735607hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121551, nssv17137595
SamplesHG00731, HG00732
Known GenesMCCC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608599
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer