A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222062



Internal ID22366258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:138226416..138253879hg38UCSC Ensembl
Outerchr9:141116866..141144329hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3827464
hg1927464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n152
Supporting Variantsnssv14281965, nssv14281966
SamplesNA19239, NA19240
Known GenesFAM157B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222062
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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