A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272247



Internal ID22326195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112151069..112166955hg38UCSC Ensembl
Outerchr3:111869916..111885802hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg389364
hg199364
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228419
Supporting Variants
SamplesNA19240
Known GenesSLC9C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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