A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215510



Internal ID22361818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:138169064..138202992hg38UCSC Ensembl
Outerchr9:141063516..141093442hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3833929
hg1929927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281869, nssv14281866, nssv14281872, nssv14281868, nssv14281865, nssv14281870, nssv14281871, nssv14281867, nssv14281873
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTUBBP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215510
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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