A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238783



Internal ID22374253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5020297..5093900hg38UCSC Ensembl
Outerchr17:4923592..4997195hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382824
hg192824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260516, nssv14261001, nssv14260515, nssv14260513, nssv14261004, nssv14260514, nssv14260512, nssv14261002, nssv14261003
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKIF1C, SLC52A1, ZFP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238783
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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