A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283579



Internal ID22255183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:94261974..94317563hg38UCSC Ensembl
Outerchr9:97024256..97079845hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244258
Supporting Variants
SamplesNA19238
Known GenesZNF169
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283579
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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