A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447373



Internal ID22113550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44944890..44944890hg38UCSC Ensembl
chr22:45340770..45340770hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766607
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447373
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