A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302977



Internal ID22322102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17419504..17419565hg38UCSC Ensembl
chr22:17898551..17898612hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532928
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302977
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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