A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272074



Internal ID22190109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:69343232..69367320hg38UCSC Ensembl
Outerchr3:69392383..69416471hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222028
Supporting Variants
SamplesHG00731
Known GenesFRMD4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272074
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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