A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216135



Internal ID22362234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43534183..43550324hg38UCSC Ensembl
Outerchr5:43534285..43550426hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381421
hg191421
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275318, nssv14275316, nssv14275317
SamplesNA19240, HG00733, HG00514
Known GenesPAIP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216135
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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