A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197012



Internal ID22346938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:221345227..221382769hg38UCSC Ensembl
Outerchr2:222209947..222247489hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3837543
hg1937543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263867, nssv14263868, nssv14263872, nssv14263869, nssv14263871, nssv14263870
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197012
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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