A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220139



Internal ID22364931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2316525..2327702hg38UCSC Ensembl
Outerchr1:2247964..2259141hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3812440
hg1912440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273661, nssv14273662
SamplesHG00732, HG00733
Known GenesMORN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220139
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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