A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242088



Internal ID22375165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86040355..86116715hg38UCSC Ensembl
Outerchr9:88655270..88731630hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283491, nssv14283497, nssv14283496, nssv14283495, nssv14283493, nssv14283492, nssv14283490, nssv14283498, nssv14283494
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGOLM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242088
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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