A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302964



Internal ID22259584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17341368..17341428hg38UCSC Ensembl
chr22:17822258..17822318hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226114
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302964
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