A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196786



Internal ID22346743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222890475..222898604hg38UCSC Ensembl
Outerchr2:223755193..223763322hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg388130
hg198130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263875, nssv14263878, nssv14263874, nssv14263879, nssv14263873, nssv14263876, nssv14263880, nssv14263877, nssv14263881
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesACSL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196786
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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