A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303538



Internal ID22187344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37227353..37227406hg38UCSC Ensembl
chr22:37623393..37623446hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221932
Supporting Variants
SamplesHG00731
Known GenesRAC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303538
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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