A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272460



Internal ID22215073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195668712..196006471hg38UCSC Ensembl
Outerchr3:195395583..195733342hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3891591
hg1991591
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217215
Supporting Variants
SamplesHG00733
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TNK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272460
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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