A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223091



Internal ID22366963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2303090..2338777hg38UCSC Ensembl
Outerchr1:2234529..2270216hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383488
hg193488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260242, nssv14260243, nssv14260241, nssv14260244, nssv14260240
SamplesHG00512, NA19238, NA19239, NA19240, HG00513
Known GenesMORN1, SKI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223091
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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