A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248638



Internal ID22377040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:296114..483532hg38UCSC Ensembl
Outerchr19:296114..483532hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385865
hg195865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4020n152
Supporting Variantsnssv14263965, nssv14263644, nssv14263645, nssv14263643, nssv14263647
SamplesHG00512, NA19239, HG00731, HG00732, NA19240
Known GenesC2CD4C, MIER2, ODF3L2, SHC2, THEG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248638
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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