A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226950



Internal ID22369584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19566041..19587056hg38UCSC Ensembl
Outerchr22:19553564..19574579hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3821016
hg1921016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269384, nssv14269383
SamplesHG00731, HG00514
Known GenesLINC00895
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226950
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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