A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263852



Internal ID22245909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207607168..207624554hg38UCSC Ensembl
Outerchr2:208471892..208489278hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3817387
hg1917387
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201933
Supporting Variants
SamplesHG00733
Known GenesMETTL21A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263852
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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