A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248201



Internal ID22376912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143241825..143262395hg38UCSC Ensembl
Outerchr8:144323995..144344565hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279916, nssv14279920, nssv14279919, nssv14279921, nssv14279917, nssv14279918
SamplesHG00512, NA19238, NA19240, HG00733, HG00513, HG00514
Known GenesZFP41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248201
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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