A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227682



Internal ID22370099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172686662..172696439hg38UCSC Ensembl
Outerchr3:172404452..172414229hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg383127
hg193127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271978, nssv14271979
SamplesNA19238, NA19240
Known GenesNCEH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227682
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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