A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217693



Internal ID22363268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86090924..86119218hg38UCSC Ensembl
Outerchr9:88705839..88734133hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3828295
hg1928295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281221, nssv14281219, nssv14281220, nssv14281218, nssv14281214, nssv14281216, nssv14281215, nssv14281217
SamplesHG00512, NA19238, NA19239, 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)nsv3217693
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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