A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272585



Internal ID22152521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:131964817..131981517hg38UCSC Ensembl
Outerchr3:131683661..131700361hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220828
Supporting Variants
SamplesHG00514
Known GenesCPNE4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272585
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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