A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227995



Internal ID22370317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135566512..135593484hg38UCSC Ensembl
Outerchr9:138458358..138485330hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3826973
hg1926973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9819n152
Supporting Variantsnssv14281855, nssv14281858, nssv14281859, nssv14281857, nssv14281860, nssv14281856
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesLOC100130954, PAEP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227995
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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