A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304232



Internal ID22303726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49922890..49922949hg38UCSC Ensembl
chr22:50316538..50316597hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217885
Supporting Variants
SamplesNA19240
Known GenesCRELD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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