A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271994



Internal ID22123539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:181449445..181477383hg38UCSC Ensembl
Outerchr3:181167233..181195171hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg383191
hg193191
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228206
Supporting Variants
SamplesHG00512
Known GenesSOX2-OT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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