A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272455



Internal ID22137459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194941227..194968135hg38UCSC Ensembl
Outerchr3:194661956..194688864hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214647
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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