A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231127



Internal ID22372142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36858320..36888882hg38UCSC Ensembl
Outerchr22:37254362..37284924hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382975
hg192975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268604, nssv14268606, nssv14268605, nssv14268602, nssv14268603
SamplesNA19238, NA19239, HG00731, HG00732, HG00513
Known GenesNCF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231127
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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