A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224444



Internal ID22367876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167025771..167061835hg38UCSC Ensembl
Outerchr1:166995008..167031072hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263919, nssv14263917, nssv14263916, nssv14263915, nssv14263918
SamplesNA19238, HG00732, NA19240, HG00733, HG00513
Known GenesGPA33
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224444
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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