A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227967



Internal ID22370295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36468059..36481684hg38UCSC Ensembl
Outerchr22:36864106..36877731hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3813626
hg1913626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269399
SamplesHG00731
Known GenesTXN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227967
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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