A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221150



Internal ID22365632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37164552..37174129hg38UCSC Ensembl
Outerchr2:37391695..37401272hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg382274
hg192274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267337, nssv14266845
SamplesNA19239, NA19240
Known GenesSULT6B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221150
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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