A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220741



Internal ID22365350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95206769..95233562hg38UCSC Ensembl
Outerchr5:94542473..94569266hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816180
hg1916180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276278, nssv14276277, nssv14276276, nssv14276275, nssv14276274, nssv14276273
SamplesNA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesMCTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220741
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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