A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239460



Internal ID22374423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:296114..434633hg38UCSC Ensembl
Outerchr19:296114..434633hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382383
hg192383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4020n152
Supporting Variantsnssv14263394, nssv14263395, nssv14263396
SamplesNA19238, HG00731, HG00733
Known GenesC2CD4C, MIER2, SHC2, THEG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239460
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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