A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194941



Internal ID22345193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234638160..234653355hg38UCSC Ensembl
Outerchr2:235546804..235561999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3815196
hg1915196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5054n152
Supporting Variantsnssv14263904, nssv14263899, nssv14263902, nssv14263903, nssv14263901, nssv14263898, nssv14263900, nssv14263905
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194941
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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