A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283545



Internal ID22156389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88612004..88664534hg38UCSC Ensembl
Outerchr9:91226919..91279449hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg386456
hg196456
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239158
Supporting Variants
SamplesHG00514
Known GenesLOC286238
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283545
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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