A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245767



Internal ID22376234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36656218..36662488hg38UCSC Ensembl
Outerchr19:37147120..37153390hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg383316
hg193316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264048, nssv14264047
SamplesNA19239, NA19240
Known GenesZNF461
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245767
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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