A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269369



Internal ID22136102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23124722..23142698hg38UCSC Ensembl
Outerchr22:23466909..23484885hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3817977
hg1917977
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224880
Supporting Variants
SamplesHG00513
Known GenesGNAZ, RTDR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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