A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3926383



Internal ID21346453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44863281..44863281hg38UCSC Ensembl
chr21:46283196..46283196hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187320
SamplesHG002
Known GenesPTTG1IP
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3926383
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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