A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271801



Internal ID22277462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17042798..17063780hg38UCSC Ensembl
Outerchr3:17084290..17105272hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381097
hg191097
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221347
Supporting Variants
SamplesNA19239
Known GenesPLCL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271801
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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