A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260183



Internal ID22184072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1228004..1281548hg38UCSC Ensembl
Outerchr16:1278004..1331549hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233674
Supporting Variants
SamplesHG00731
Known GenesTPSAB1, TPSB2, TPSD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260183
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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