A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272524



Internal ID22121141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:177263993..177291784hg38UCSC Ensembl
Outerchr3:176981781..177009572hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382999
hg192999
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227146
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272524
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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