A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270004



Internal ID22271358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36954138..36973919hg38UCSC Ensembl
Outerchr22:37350179..37369960hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243791
Supporting Variants
SamplesNA19239
Known GenesLOC100506241
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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