A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303652



Internal ID22274515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41466582..41466924hg38UCSC Ensembl
chr22:41862586..41862928hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221907
Supporting Variants
SamplesNA19239
Known GenesPHF5A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303652
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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