A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303379



Internal ID22264966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48542391..48542638hg38UCSC Ensembl
chr22:48938203..48938450hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224243
Supporting Variants
SamplesNA19238
Known GenesFAM19A5, LOC284933
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303379
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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