A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238458



Internal ID22374159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36163722..36200426hg38UCSC Ensembl
Outerchr19:36654624..36691328hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264199, nssv14264201, nssv14264198, nssv14264200, nssv14264195, nssv14264194, nssv14264197, nssv14264196, nssv14264193
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZNF565
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238458
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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