A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214350



Internal ID22361027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44109893..44118640hg38UCSC Ensembl
Outerchr22:44505773..44514520hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg388748
hg198748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269346, nssv14269343, nssv14269344, nssv14269345, nssv14269342
SamplesHG00731, HG00732, NA19240, HG00733, HG00513
Known GenesPARVB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214350
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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