A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239158



Internal ID22374349
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283543, nssv14283550, nssv14283551, nssv14283547, nssv14283548, nssv14283545, nssv14283546, nssv14283549, nssv14283544
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC286238
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239158
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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