A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272497



Internal ID22124979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48184164..48203318hg38UCSC Ensembl
Outerchr3:48225654..48244808hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3819482
hg1919482
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224297
Supporting Variants
SamplesHG00512
Known GenesCDC25A, MIR4443
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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