A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223586



Internal ID22367308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2322669..2327702hg38UCSC Ensembl
Outerchr1:2254108..2259141hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383269
hg193269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272862, nssv14272861
SamplesHG00731, HG00514
Known GenesMORN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223586
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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