A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231493



Internal ID22331122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:831702..883322hg38UCSC Ensembl
Outerchr19:831702..883322hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387036
hg197036
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262977, nssv14262974, nssv14262971, nssv14262976, nssv14262969, nssv14262975, nssv14262970, nssv14262972, nssv14262973
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAZU1, CFD, ELANE, MED16, PRTN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231493
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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