A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647047



Internal ID21595352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29074913..29074913hg38UCSC Ensembl
chr16:29086234..29086234hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17098518
SamplesNA20847
Known GenesRRN3P2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647047
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