A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269979



Internal ID22204524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20331920..20383088hg38UCSC Ensembl
Outerchr22:20319443..20737378hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg387775
hg197775
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237895
Supporting Variants
SamplesHG00732
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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