A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253188



Internal ID22185388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126870511..126878115hg38UCSC Ensembl
Outerchr9:129632790..129640394hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245846
Supporting Variants
SamplesHG00731
Known GenesZBTB34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253188
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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